AiPD: Autoinhibited Protein Database

P11362

Gene name	FGFR1 (BFGFR, CEK, FGFBR, FLG, FLT2, HBGFR)
Protein name	Fibroblast growth factor receptor 1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2260
EC number	2.7.10.1: Protein-tyrosine kinases
Protein Class	TYROSINE-PROTEIN KINASE RECEPTOR (PTHR24416)

Descriptions

Fibroblast growth factor receptor 1 (FGFR1) is one of the members of FGFR family belonging to the receptor tyrosine kinases (RTK) in cell proliferation, differentiation, migration, and maintenance of cellular homeostasis. FGFR1 consists of the ligand-binding region (immunoglobulin (Ig) domain 1-like domains) designated D1, D2, and D3, and a kinase domain. The D1 domain and the acid box (AB)-containing linker between D1 and D2 are involved in autoinhibition. Loss of D1 or the linker enhances the affinity of FGFR for FGF and HS and increases the signaling capacity of FGFR. Specifically, the AB region blocks the heparan sulfate (HS)-binding site on the D2 domain in cis to suppress HS-binding affinity of EGFR. D1 is dispensable for autoinhibition but plays a minor role in autoinhibition.

Autoinhibitory domains (AIDs)

Target domain	23-120 (D2 domain)
Relief mechanism	Others
Assay	Split protein assay, Structural analysis

AID

121-151 (AB/linker region)

Target domain

23-120 (D2 domain)

Relief mechanism

Others (Substitution of the acidic residues in AB subregion with alanines without changing the length of AB/linker)

Assay

Split protein assay, Structural analysis

Accessory elements

640-665 (Activation loop from InterPro)

Target domain	464-765 (Catalytic domain of the Protein Tyrosine Kinase, Fibroblast Growth Factor Receptor 1)
Relief mechanism
Assay

References

Lew ED et al. (2007) "Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation", Proceedings of the National Academy of Sciences of the United States of America, 104, 19802-7

Kalinina J et al. (2012) "The alternatively spliced acid box region plays a key role in FGF receptor autoinhibition", Structure (London, England : 1993), 20, 77-88

Uchikawa E et al. (2019) "Activation mechanism of the insulin receptor revealed by cryo-EM structure of the fully liganded receptor-ligand complex", eLife, 8,

Nielsen J et al. (2022) "Structural Investigations of Full-Length Insulin Receptor Dynamics and Signalling", Journal of molecular biology, 434, 167458

Chen YS et al. (2021) "Insertion of a synthetic switch into insulin provides metabolite-dependent regulation of hormone-receptor activation", Proceedings of the National Academy of Sciences of the United States of America, 118,

Craddock BP et al. (2007) "Autoinhibition of the insulin-like growth factor I receptor by the juxtamembrane region", FEBS letters, 581, 3235-40

Klein T et al. (2015) "Structural and dynamic insights into the energetics of activation loop rearrangement in FGFR1 kinase", Nature communications, 6, 7877

Autoinhibited structure

Activated structure

72 structures for P11362

Entry ID	Method	Resolution	Chain	Position	Source
1AGW	X-ray	240 A	A/B	456-765	PDB
1CVS	X-ray	280 A	C/D	141-365	PDB
1EVT	X-ray	280 A	C/D	141-365	PDB
1FGI	X-ray	250 A	A/B	456-765	PDB
1FGK	X-ray	200 A	A/B	456-765	PDB
1FQ9	X-ray	300 A	C/D	141-365	PDB
1XR0	NMR	-	A	409-430	PDB
2CR3	NMR	-	A	38-123	PDB
2FGI	X-ray	250 A	A/B	456-765	PDB
3C4F	X-ray	207 A	A/B	464-765	PDB
3DPK	X-ray	195 A	A	577-615	PDB
3GQI	X-ray	250 A	A	458-774	PDB
3GQL	X-ray	280 A	A/B/C	458-774	PDB
3JS2	X-ray	220 A	A/B	458-765	PDB
3KRJ	X-ray	210 A	A	577-597	PDB
3KRL	X-ray	240 A	A	577-597	PDB
3KXX	X-ray	320 A	A/B/C/D	458-765	PDB
3KY2	X-ray	270 A	A/B	458-765	PDB
3OJV	X-ray	260 A	C/D	142-365	PDB
3RHX	X-ray	201 A	A/B	461-765	PDB
3TT0	X-ray	280 A	A/B	456-765	PDB
4F63	X-ray	255 A	A/B	458-765	PDB
4F64	X-ray	205 A	A/B	458-765	PDB
4F65	X-ray	226 A	A/B	458-765	PDB
4NK9	X-ray	257 A	A/B	458-765	PDB
4NKA	X-ray	219 A	A/B	458-765	PDB
4NKS	X-ray	250 A	A/B	458-765	PDB
4RWI	X-ray	229 A	A/B	458-765	PDB
4RWJ	X-ray	249 A	A/B	458-765	PDB
4RWK	X-ray	298 A	A/B	458-765	PDB
4RWL	X-ray	219 A	A/B	458-765	PDB
4UWB	X-ray	231 A	A/B	458-765	PDB
4UWC	X-ray	196 A	A/B	458-765	PDB
4UWY	X-ray	231 A	A/B	458-765	PDB
4V01	X-ray	233 A	A/B	458-765	PDB
4V04	X-ray	212 A	A/B	458-765	PDB
4V05	X-ray	257 A	A/B	458-765	PDB
4WUN	X-ray	165 A	A/B	459-765	PDB
4ZSA	X-ray	200 A	A/B	458-765	PDB
5A46	X-ray	263 A	A/B	437-822	PDB
5A4C	X-ray	209 A	A/B	461-765	PDB
5AM6	X-ray	196 A	A/B	458-765	PDB
5AM7	X-ray	196 A	A/B	458-765	PDB
5B7V	X-ray	215 A	A/B	456-765	PDB
5EW8	X-ray	163 A	A/B	458-765	PDB
5FLF	X-ray	258 A	A/B/C/D/E	458-765	PDB
5O49	X-ray	191 A	A/B	458-765	PDB
5O4A	X-ray	201 A	A/B	458-765	PDB
5UQ0	X-ray	230 A	A/B	459-765	PDB
5UR1	X-ray	220 A	A/B	459-765	PDB
5VND	X-ray	220 A	A/B	458-765	PDB
5W21	X-ray	300 A	C	142-365	PDB
5W59	X-ray	250 A	B	142-365	PDB
5Z0S	X-ray	245 A	A/B	458-765	PDB
5ZV2	X-ray	286 A	A/B	461-764	PDB
6C18	X-ray	230 A	A/B	459-765	PDB
6C19	X-ray	212 A	A/B	459-765	PDB
6C1B	X-ray	200 A	A/B	459-765	PDB
6C1C	X-ray	215 A	A/B	459-765	PDB
6C1O	X-ray	229 A	A/B	459-765	PDB
6ITJ	X-ray	199 A	A/B	458-765	PDB
6MZQ	X-ray	200 A	A/B	459-765	PDB
6MZW	X-ray	220 A	A/B	459-765	PDB
6NVL	X-ray	270 A	A/B/C/D	458-765	PDB
6P68	X-ray	290 A	A/B/C	458-765	PDB
6P69	X-ray	220 A	A/B	458-765	PDB
7OZB	X-ray	171 A	AAA/BBB	458-765	PDB
7OZD	X-ray	182 A	AAA/BBB	458-765	PDB
7OZF	X-ray	182 A	AAA/BBB	458-765	PDB
7WCL	X-ray	250 A	A/B	458-765	PDB
7YSH	EM	274 A	D/E	142-366	PDB
AF-P11362-F1	Predicted				AlphaFoldDB

622 variants for P11362

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA370767292 rs1554594114 RCV000662312	2	W>*	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_074012 CA175774447 rs760884357	4	W>C	HH2; unknown pathological significance [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
RCV001161822 rs143341876 CA4718943 COSM1699991 RCV001163335 RCV001161821 COSM1699989 RCV001161823 COSM1699988 COSM1699990	23	P>L	Hypogonadotropic hypogonadism 2 with or without anosmia skin Osteoglophonic dysplasia Craniosynostosis syndrome Trigonocephaly 1 [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs145434725 RCV001856982 CA4718940 RCV000493590	28	P>L	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA370736589 rs1085307493 RCV001865508 RCV000489554	43	F>C	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs121909640 CA257479 VAR_030968 RCV000017691	48	G>S	HH2; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism Hypogonadotropic hypogonadism 2 with or without anosmia [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA4718869 rs778531708 RCV000552834	54	R>C	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA175151953 RCV001332493 rs1034848904	56	R>W	Encephalocraniocutaneous lipomatosis [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001760419 rs768919123 RCV001326741 CA4718857	65	N>H	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
VAR_072993 COSM48381 CA4718853 RCV001251094 rs140254426	70	G>R	lung HH2 Hypogonadotropic hypogonadism 2 with or without anosmia [Cosmic, UniProt, ClinVar]	Yes	ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs561300213 RCV001251093	71	V>M	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinVar dbSNP
RCV000644518 CA370736417 rs1554570813 RCV000593963	72	Q>*	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001547124 CA4718846 RCV001237839 VAR_030969 rs767195580	77	N>K	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
COSM1456973 RCV000704507 VAR_030970 rs1554570706 CA370736382 COSM1456974 RCV000498444 RCV001004067	78	R>C	HH2 Hypogonadotropic hypogonadism 2 with or without anosmia large_intestine [UniProt, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
rs755828990 RCV001163225 CA4718831 RCV001165321 RCV001163227 RCV001163226	92	V>M	Hypogonadotropic hypogonadism 2 with or without anosmia Osteoglophonic dysplasia Craniosynostosis syndrome Trigonocephaly 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001004069 rs1586375906	92	V>missing	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinVar dbSNP
RCV001267524 rs1822227427	95	D>E	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
CA370736270 RCV000850554 rs1260404537	97	G>C	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001251092 rs1260404537	97	G>R	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinVar dbSNP
RCV000156961 rs727505373 CA185888 VAR_017886 RCV000156962	99	Y>C	HH2; impairs the tertiary folding resulting in incomplete glycosylation and reduced cell surface expression Delayed puberty Hypogonadotropic hypogonadism 7 with or without anosmia [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
rs1822219907 RCV001219412	99	Y>H	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinVar dbSNP
rs55642501 RCV001163223 CA4718822 RCV000625740 RCV001163224 RCV001163221 VAR_030972 RCV001163222 RCV001572134 RCV000644523	102	V>I	HH2 Hypogonadotropic hypogonadism 2 with or without anosmia Osteoglophonic dysplasia Hartsfield-Bixler-Demyer syndrome Craniosynostosis syndrome Trigonocephaly 1 [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM1236024 CA202417 COSM1236023 RCV000405061 RCV000546208 RCV000177331 RCV000300152 RCV001573117 rs140382957 RCV000405303 RCV000350406	107	S>L	Hypogonadotropic hypogonadism 2 with or without anosmia Osteoglophonic dysplasia (ogd) Osteoglophonic dysplasia Trigonocephaly 1 (trigno1) haematopoietic_and_lymphoid_tissue Craniosynostosis syndrome Trigonocephaly 1 [ClinVar, Ensembl, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1419947824 RCV001341267 CA370736202	108	G>S	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001213861 rs775020833 CA4718819	111	T>I	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA4718816 VAR_072994 rs747842199	116	V>I	HH2 [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
CA4718815 RCV000824229 rs780765366 VAR_069288 RCV001557461	117	N>S	Hypogonadotropic hypogonadism 2 with or without anosmia HH2; some patients also carry GNRHR mutations [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000418895 COSM601 COSM1456965 CA4718768 COSM1456963 COSM1456962 rs121913473 VAR_042201	125	S>L	Neoplasm large_intestine a breast infiltrating ductal carcinoma sample; somatic mutation breast [ClinVar, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000521203 RCV002060267 rs765615419 VAR_030973 CA4718764	129	D>A	HH2 Hypogonadotropic hypogonadism 2 with or without anosmia [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV001351471 CA370736026 rs1161536828	130	D>V	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001332496 rs1821566729	131	D>N	Jackson-Weiss syndrome [ClinVar]	Yes	ClinVar dbSNP
rs138489552 RCV000869877	133	D>missing	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinVar dbSNP
RCV000512821 rs138489552 RCV001343353	133	D>missing	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinVar dbSNP
RCV000386920 RCV001861321 CA4718752 RCV001584091 rs201054877 RCV000289001 RCV000347374 RCV000391006	139	K>E	Hypogonadotropic hypogonadism 2 with or without anosmia Osteoglophonic dysplasia Craniosynostosis syndrome Trigonocephaly 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001324327 rs200482627 COSM48380 CA4718750	141	T>R	lung Hypogonadotropic hypogonadism 2 with or without anosmia [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001299412 rs1033377277	152	A>P	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinVar dbSNP
COSM1099653 COSM1597687 CA370735875 RCV000625700 rs1033377277 COSM1099652 COSM1099650	152	A>T	endometrium Hartsfield-Bixler-Demyer syndrome [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
VAR_070851 rs397515481 CA280342	165	L>S	HRTFDS Hartsfield syndrome (hrtfds) [UniProt, Ensembl]	Yes	ClinGen UniProt Ensembl dbSNP
RCV000030929 CA130217 rs121909630 VAR_017887	167	A>S	HH2; with cleft palate, corpus callosum agenesis, unilateral deafness and fusion of fourth and fifth metacarpal bones Hypogonadotropic hypogonadism 2 with anosmia [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000200962 CA279059 rs863223331 COSM244525 COSM244522 COSM244523	189	R>C	Hypogonadotropic hypogonadism 2 with or without anosmia prostate [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar Ensembl dbSNP
VAR_070852 rs869025669 CA357151	191	L>S	HRTFDS Hartsfield syndrome (hrtfds) [UniProt, Ensembl]	Yes	ClinGen UniProt Ensembl dbSNP
CA4718706 RCV001349073 rs770139002	195	K>R	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1554564353 CA370735472 RCV000662313	209	R>C	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001760168 RCV001205279 rs763771933 CA4718676	216	I>V	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1246231808 RCV001251091 RCV001724276	226	G>D	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinVar dbSNP
VAR_030978 rs121909635 RCV000017684 CA257478	237	G>S	Hypogonadotropic hypogonadism 2 with or without anosmia HH2; with or without anosmia; also found in a family member with isolated anosmia; may impair proper folding [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs186746130 RCV000379458 CA4718662	248	V>M	Craniosynostosis syndrome [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000030940 COSM3785989 VAR_069291 COSM3785994 CA260625 COSM3785992 rs121909645 COSM3785990	250	R>Q	HH2; with or without anosmia; results in Kallmann syndrome in the presence of HS6ST1 mutation TRP-306; reduces receptor affinity for fibroblast growth factor Hypogonadotropic hypogonadism 2 with or without anosmia pancreas [UniProt, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
VAR_004111 RCV000017670 RCV000644520 CA280217 RCV000017669 rs121909627 RCV001200303	252	P>R	Pfeiffer syndrome Jackson-weiss syndrome (jws) Hypogonadotropic hypogonadism 2 with or without anosmia Jackson-Weiss syndrome PS and JWS [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
COSM12834 CA16602744 rs121913472 RCV000436130 VAR_042202	252	P>T	lung Neoplasm a lung bronchoalveolar carcinoma sample; somatic mutation [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
RCV000268656 CA4718641 rs747978107 RCV000327189 RCV000275517 RCV000366723	263	A>T	Hypogonadotropic hypogonadism 2 with or without anosmia Osteoglophonic dysplasia Craniosynostosis syndrome Trigonocephaly 1 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000119058 CA269805 rs515726223	264	N>H	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_030983 RCV000492969 RCV001851361 CA370735039 rs1131691929	273	V>M	HH2 Hypogonadotropic hypogonadism 2 with or without anosmia [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
VAR_030984 RCV000156951 CA185881 RCV000156952 rs727505369	274	E>G	Delayed puberty Hypogonadotropic hypogonadism 7 with or without anosmia HH2; also found in a family member with isolated anosmia [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs528376963 CA4718630 RCV000608240	294	E>K	Holoprosencephaly sequence [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs1820048488 RCV001251090	296	N>S	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinVar dbSNP
RCV000502492 RCV000017681 RCV000514891 CA126355 rs121909633 VAR_030986 RCV000766015	300	I>T	Hypogonadotropic hypogonadism 2 with or without anosmia Trigonocephaly 1 (trigno1) TRIGNO1 Trigonocephaly 1 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000787327 rs1586287963 CA370734804	306	P>L	Osteoglophonic dysplasia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs121909632 CA126353 RCV000017678 VAR_030987	330	N>I	Osteoglophonic dysplasia (ogd) Osteoglophonic dysplasia OGD [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
CA130218 rs121909638 RCV000030933 VAR_069954	342	L>S	HH2; phenotype consistent with Kallmann syndrome; the patient also carries a splice site mutation in NSMF Hypogonadotropic hypogonadism 2 with anosmia [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000156957 rs727505371 RCV000156958	346	S>missing	Delayed puberty Hypogonadotropic hypogonadism 7 with or without anosmia [ClinVar]	Yes	ClinVar dbSNP
RCV001251089 rs1818930617	348	G>E	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinVar dbSNP
rs886037634 RCV000043588 CA10575577 RCV000319353 VAR_069955 RCV001542473	348	G>R	Hypogonadotropic hypogonadism 2 with or without anosmia Hypogonadotropic hypogonadism 2 with anosmia HH2; phenotype consistent with Kallmann syndrome; the patient also carries a mutation in IL17RD [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA370734104 rs1563474845 RCV000702519	355	W>S	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs774768179 RCV001345874 CA4718537	358	V>I	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
VAR_030992 RCV001824283 RCV000030936 CA130222 RCV000156970 rs121909641 RCV000763182	366	P>L	Hypogonadotropic hypogonadism 2 with or without anosmia HH2; with or without anosmia Hypogonadotropic hypogonadism 7 with or without anosmia Hypogonadotropic hypogonadism 2 with anosmia [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_030993 CA126354 RCV000017679 rs121909631	374	Y>C	Osteoglophonic dysplasia (ogd) Osteoglophonic dysplasia OGD; elevated basal activity and increased FGF2-mediated activity [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs121909634 CA126356 RCV000017682 VAR_030994	381	C>R	Osteoglophonic dysplasia (ogd) Osteoglophonic dysplasia OGD [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1817962450 RCV001321531	411	Q>K	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinVar dbSNP
RCV001163006 RCV001163005 rs1817948350 RCV001163007 RCV001163008	422	P>A	Hypogonadotropic hypogonadism 2 with or without anosmia Osteoglophonic dysplasia Craniosynostosis syndrome Trigonocephaly 1 [ClinVar]	Yes	ClinVar dbSNP
RCV001228910 CA4718419 rs372654433	440	G>E	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs587776835 RCV000030935	441	V>missing	Hypogonadotropic hypogonadism 2 with anosmia [ClinVar]	Yes	ClinVar dbSNP
rs758138124 CA370733346 RCV001346534	448	R>L	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
COSM3395321 COSM3395323 COSM3395320 COSM3395319 rs758138124 RCV000540340 RCV000757294 CA4718406	448	R>Q	Hypogonadotropic hypogonadism 2 with or without anosmia pancreas [ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
RCV001198551 CA4718407 rs749903780	448	R>W	Encephalocraniocutaneous lipomatosis [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA4718401 rs200776757 RCV000337400 RCV001528843 RCV001764333 RCV000408775 RCV000284766 RCV000404673 RCV000343209 RCV000703651	456	M>I	Pfeiffer syndrome Hypogonadotropic hypogonadism 2 with or without anosmia Craniosynostosis, nonspecific Osteoglophonic dysplasia Craniosynostosis syndrome Trigonocephaly 1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs121909637 RCV000030932 VAR_069292 RCV001851897 CA260621	470	R>L	Hypogonadotropic hypogonadism 2 with or without anosmia HH2; some patients also carry GNRHR mutations [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs397515444 VAR_069956 CA143802 RCV000043589	483	P>T	HH2; phenotype consistent with Kallmann syndrome; the patient also carries a rare variant in SPRY4 Hypogonadotropic hypogonadism 2 with anosmia [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
rs876661332 RCV000223739 CA10581216	485	G>V	Hartsfield-Bixler-Demyer syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000591024 rs515726224 RCV000119059 CA269807	487	G>D	Hypogonadotropic hypogonadism 2 with or without anosmia Hartsfield-Bixler-Demyer syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_070853 RCV000417937 rs869025670 CA16603309	490	G>R	HRTFDS Hartsfield syndrome (hrtfds) [UniProt, Ensembl]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1586172462 CA370733080 RCV000988049	490	G>V	Osteoglophonic dysplasia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA4718362 rs759552236 RCV001262823	499	G>R	Hartsfield-Bixler-Demyer syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001068950 rs1817280576	504	K>missing	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinVar dbSNP
rs369356672 RCV001253587 RCV001857029 RCV000498726 CA4718357	507	R>H	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000689540 CA370732935 rs199573818	514	K>Q	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1057519899 RCV000435727 CA16602865 RCV000419230 RCV000429290 RCV000436467 RCV000418590	515	M>V	Medulloblastoma (mdb) Medulloblastoma Gastric adenocarcinoma Neuroblastoma Astrocytoma [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs749758370 CA4718333 VAR_030995	520	A>T	HH2 [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs1817052708 RCV001221361	531	E>G	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinVar dbSNP
RCV000521341 RCV000591018 rs1554551657	535	M>missing	Hartsfield-Bixler-Demyer syndrome [ClinVar]	Yes	ClinVar dbSNP
CA370732220 rs1554551667 RCV000591009	535	M>K	Hartsfield-Bixler-Demyer syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000277344 RCV000298552 RCV000259751 rs201158796 CA10630970 RCV000369604	539	G>R	Hypogonadotropic hypogonadism 2 with or without anosmia Osteoglophonic dysplasia Craniosynostosis syndrome Trigonocephaly 1 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1057519898 CA16602864 RCV000443693 RCV000424432 RCV000425019 RCV000443832 RCV000435153	546	N>D	Medulloblastoma (mdb) Medulloblastoma Gastric adenocarcinoma Neuroblastoma Astrocytoma [Ensembl, ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA357830 COSM1284968 COSM302229 RCV000210485 RCV000439566 COSM1737759 COSM19176 VAR_075853 COSM302231 RCV000440238 RCV000428878 rs779707422 RCV000487433 COSM1284966 COSM302230 RCV000429528 COSM1284967 RCV000422315	546	N>K	Medulloblastoma (mdb) Encephalocraniocutaneous lipomatosis Medulloblastoma autonomic_ganglia central_nervous_system ECCL; somatic mutation; activating mutation; strongly increased speed of the first autophosphorylation and loss of the normal sequential order of autophosphorylation Gastric adenocarcinoma Neuroblastoma Astrocytoma [Ensembl, ClinVar, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV001055318 rs760702592	552	T>R	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinVar dbSNP
RCV001199033 rs1816433701	557	L>missing	Encephalocraniocutaneous lipomatosis [ClinVar]	Yes	ClinVar dbSNP
rs768223019 RCV001860516 CA370731862 RCV001002536 RCV001332494	565	S>F	Encephalocraniocutaneous lipomatosis Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1060499663 RCV000449624	571	E>missing	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinVar dbSNP
RCV000030927 rs121909629 CA130216 VAR_017889	607	V>M	HH2; with bimanual synkinesis Hypogonadotropic hypogonadism 2 with anosmia [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1816367128 RCV001281296	608	A>missing	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinVar dbSNP
RCV001251087 rs1816366242	608	A>D	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinVar dbSNP
rs121909639 RCV000030934 CA130219 RCV000500417 RCV000478244	609	R>*	Hypogonadotropic hypogonadism 2 with or without anosmia Hypogonadotropic hypogonadism 2 with anosmia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000156954 RCV000760399 RCV001807003 RCV000156953 CA185882 RCV000030926 rs121909628	622	R>*	Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism 2 with or without anosmia Delayed puberty Hypogonadotropic hypogonadism 7 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000255867 CA10588455 VAR_030998 rs121909628	622	R>G	HH2; with severe ear anomalies [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000625696 rs780009859 CA370730581	623	D>E	Hartsfield-Bixler-Demyer syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs398122946 CA280344 VAR_070854	623	D>Y	HRTFDS Hartsfield syndrome (hrtfds) [UniProt, Ensembl]	Yes	ClinGen UniProt Ensembl dbSNP
CA370730567 rs1586113652 RCV001004066	624	L>P	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001257986 CA370730519 RCV000779636 rs1563436265	627	R>S	Congenital cerebellar hypoplasia Hartsfield-Bixler-Demyer syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs869025671 CA357148 VAR_071460	627	R>T	HRTFDS Hartsfield syndrome (hrtfds) [UniProt, Ensembl]	Yes	ClinGen UniProt Ensembl dbSNP
CA357150 VAR_070855 rs869025672	628	N>K	HRTFDS Hartsfield syndrome (hrtfds) [UniProt, Ensembl]	Yes	ClinGen UniProt TOPMed dbSNP gnomAD
RCV000156956 RCV000156955 CA185884 rs727505370	639	I>T	Delayed puberty Hypogonadotropic hypogonadism 7 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001880193 RCV001269555 rs1815800575	640	A>V	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinVar dbSNP
rs1554548253 CA370730316 RCV000614143	641	D>N	Hartsfield-Bixler-Demyer syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs876661333 CA10581215 RCV000223914	643	G>D	Microform holoprosencephaly [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001849345 rs869320694 VAR_075855 COSM302228 RCV000430840 COSM1559837 RCV000441552 RCV000428027 RCV000420160 RCV000420790 COSM302227 RCV000438709 RCV000210479 COSM35673 CA358862	656	K>E	Medulloblastoma (mdb) ECCL; somatic mutation Encephalocraniocutaneous lipomatosis Medulloblastoma Glioblastoma central_nervous_system Hepatocellular carcinoma Pilomyxoid astrocytoma Astrocytoma Lymphoblastic leukemia, acute, with lymphomatous features [Ensembl, UniProt, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP
RCV000422833 RCV000444182 RCV000433539 RCV000426798 rs1057519897 RCV000443011 RCV000437662 CA16602863	656	K>N	Medulloblastoma (mdb) Medulloblastoma Glioblastoma Hepatocellular carcinoma Astrocytoma Lymphoblastic leukemia, acute, with lymphomatous features [Ensembl, ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000030924 rs1586111679	657	T>missing	Hypogonadotropic hypogonadism 2 with anosmia [ClinVar]	Yes	ClinVar dbSNP
CA370729730 rs1563433902 VAR_017890 RCV000030925	666	W>R	HH2; with cleft palate Hypogonadotropic hypogonadism 2 with anosmia [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA370729735 RCV000710044 rs1563433902	666	W>R	Hartsfield-Bixler-Demyer syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_069957 CA143804 RCV000043591 rs397515446	670	E>K	HH2; phenotype consistent with Kallmann syndrome; the patient also carries a rare variant in FLRT3 Hypogonadotropic hypogonadism 2 with anosmia [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs771078736 RCV001161357 RCV001161358 RCV001779123 CA4718200 RCV001161356 RCV001161359	675	R>P	Hypogonadotropic hypogonadism 2 with or without anosmia Osteoglophonic dysplasia Craniosynostosis syndrome Trigonocephaly 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP
RCV000156950 CA185879 rs121909636 RCV000030931	680	Q>*	Hypogonadotropic hypogonadism 2 with or without anosmia Delayed puberty [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000503490 rs727505376 CA370729121	687	G>R	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA185894 RCV000156967 rs727505376 RCV001251086 VAR_031001 RCV001795280	687	G>R	HH2 Hypogonadotropic hypogonadism 2 with or without anosmia Hypogonadotropic hypogonadism 7 with or without anosmia [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000043590 rs397515445 VAR_069958 CA143803	692	E>G	HH2; phenotype consistent with Kallmann syndrome; the patient also carries a rare variant in DUSP6 Hypogonadotropic hypogonadism 2 with anosmia [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs876661335 CA10581213 RCV000223865	692	E>K	Holoprosencephaly sequence [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs515726225 RCV000119060 CA269809	695	T>I	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs768957161 VAR_031004 COSM1623991 COSM1623992 COSM1623990 COSM1623993 CA4718176	703	G>S	HH2 liver [UniProt, Cosmic]	Yes	ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD
RCV001293690 rs1815455535	713	L>P	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinVar dbSNP
RCV000490235 VAR_074014 CA370728508 rs1085307879	719	M>V	HH2; unknown pathological significance [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs267606805 VAR_031005 CA045363	722	P>H	HH2; associated with K-724; also found in a family member with isolated anosmia; reduced tyrosine kinase activity [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
VAR_031006 RCV000030937 CA130223 rs121909642	722	P>S	HH2 Hypogonadotropic hypogonadism 2 with anosmia [UniProt, ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_031007 CA045386 rs267606806	724	N>K	HH2; associated with H-722; also found in a family member with isolated anosmia; reduced tyrosine kinase activity [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
CA280341 rs398122945 VAR_070856	725	C>Y	HRTFDS Hartsfield syndrome (hrtfds) [UniProt, Ensembl]	Yes	ClinGen UniProt Ensembl dbSNP
rs1554546677 CA370728131 RCV000560918	736	C>R	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA185896 rs727505377 RCV000156969	737	W>R	Hypogonadotropic hypogonadism 7 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001164861 CA4718133 RCV001164859 RCV001164858 RCV001164860 rs527606454	758	V>M	Hypogonadotropic hypogonadism 2 with or without anosmia Osteoglophonic dysplasia Craniosynostosis syndrome Trigonocephaly 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs121909643 RCV000030938 CA260622	764	Q>H	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs121909644 CA260624 VAR_069959 RCV000030939	768	D>Y	Hypogonadotropic hypogonadism 2 with or without anosmia HH2; the patient also carries a rare variant in FGF8 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
rs377149398 RCV001339887 CA175137748	784	R>W	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar ESP dbSNP gnomAD
VAR_031010 rs781328162 COSM1456911 COSM1456910 CA4718085 COSM1456909	795	V>I	large_intestine HH2; also found in a family member with isolated anosmia [Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD
COSM1187522 RCV001161240 RCV001161242 RCV001859044 rs377620009 COSM1187521 RCV001161241 RCV001161243 COSM1187520 CA4718083	800	P>L	lung Hypogonadotropic hypogonadism 2 with or without anosmia Osteoglophonic dysplasia Craniosynostosis syndrome Trigonocephaly 1 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs759376422 RCV001216941 CA4718072	810	H>N	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000851573 rs1586083500	821	R>missing	Hypogonadotropic hypogonadism 2 with or without anosmia [ClinVar]	Yes	ClinVar dbSNP
RCV001159837 RCV001159836 CA4718065 RCV002060753 RCV001159834 VAR_019292 RCV001159835 rs17182463 RCV000644522	822	R>C	Hypogonadotropic hypogonadism 2 with or without anosmia Osteoglophonic dysplasia Craniosynostosis syndrome Trigonocephaly 1 [ClinVar]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV001327949 RCV000363279 CA4718064 RCV000304983 rs758677681 RCV000757293 RCV000310867 RCV000361960	822	R>H	Hypogonadotropic hypogonadism 2 with or without anosmia Infertility Osteoglophonic dysplasia Craniosynostosis syndrome Trigonocephaly 1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA175774448 rs1014244943	2	W>S		No	ClinGen Ensembl
rs1241452278 CA370767287	3	S>C		No	ClinGen gnomAD
rs751651299 CA4718958	3	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1202687392 CA370767257	7	L>F		No	ClinGen gnomAD
rs532741632 CA4718957	7	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1259538191 CA370767251	8	L>F		No	ClinGen gnomAD
rs750602076 CA4718955	9	F>I		No	ClinGen ExAC gnomAD
CA370767239 rs1285368969	10	W>R		No	ClinGen TOPMed gnomAD
rs765703437 CA4718954	11	A>T		No	ClinGen ExAC gnomAD
rs762020019 CA4718953	11	A>V		No	ClinGen ExAC gnomAD
CA370767227 rs1563627828	12	V>M		No	ClinGen Ensembl
rs764533580 CA4718951	13	L>P		No	ClinGen ExAC gnomAD
RCV000711646 rs1563627742	15	T>missing		No	ClinVar dbSNP
rs1586746653 CA370767211	15	T>P		No	ClinGen Ensembl
CA4718949 rs200596591	16	A>V		No	ClinGen ExAC gnomAD
rs771549051 CA4718948	18	L>F		No	ClinGen ExAC gnomAD
rs759243486 CA4718947	19	C>S		No	ClinGen ExAC gnomAD
rs1563627473 CA370767182	20	T>P		No	ClinGen Ensembl
COSM1623997 COSM1623995 COSM1623996 rs1383262590 COSM3663754 COSM1623994 CA370767174	21	A>T	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
rs148343099 CA4718945	22	R>G		No	ClinGen ESP ExAC TOPMed
CA4718944 VAR_019290 rs17175750	22	R>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM1099656 rs149206728 CA175774442 COSM1099658 COSM1099655 COSM1099657	25	P>L	endometrium [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
CA370767137 rs1230569367	27	L>F		No	ClinGen TOPMed gnomAD
rs1204612499 CA370767134	28	P>S		No	ClinGen gnomAD
rs1240973335 CA370767126	29	E>D		No	ClinGen gnomAD
CA4718939 rs758551875	29	E>G		No	ClinGen ExAC gnomAD
CA370736656 rs1371683958	33	P>S		No	ClinGen gnomAD
CA4718878 rs773442656	35	G>R		No	ClinGen ExAC TOPMed gnomAD
CA370736633 rs1424869652	36	A>V		No	ClinGen gnomAD
rs377555354 CA4718877	38	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA370736621 rs1164001578	39	E>K		No	ClinGen gnomAD
CA370736612 rs1181847676	40	V>M		No	ClinGen gnomAD
rs1460882520 CA370736606	41	E>K		No	ClinGen gnomAD
rs938545315 CA175151978	41	E>V		No	ClinGen gnomAD
rs1200752017 CA370736599	42	S>P		No	ClinGen gnomAD
rs1586381054 CA370736573	46	H>P		No	ClinGen Ensembl
rs769061510 CA4718874	46	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA4718873 rs747480026	47	P>L		No	ClinGen ExAC TOPMed gnomAD
CA370736552 rs1381400802	49	D>E		No	ClinGen TOPMed gnomAD
rs1563516081 CA370736534	52	Q>H		No	ClinGen Ensembl
rs145315779 CA4718868	54	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA370736515 rs1586380306	55	C>W		No	ClinGen Ensembl
rs763858257 CA4718866	56	R>Q		No	ClinGen ExAC gnomAD
rs1301127877 CA370736511	57	L>M		No	ClinGen TOPMed
CA4718863 rs200116660	58	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1162148796 CA370736505	58	R>W		No	ClinGen gnomAD
rs150042321 CA4718862	59	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA4718861 rs150042321	59	D>V		No	ClinGen 1000Genomes ExAC gnomAD
CA370736496 rs1586379709	60	D>N		No	ClinGen Ensembl
rs776846726 CA4718858	61	V>A		No	ClinGen ExAC TOPMed gnomAD
CA4718859 rs762089291	61	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1586379523 RCV001007991 CA370736482	62	Q>*		No	ClinGen ClinVar Ensembl dbSNP
CA370736477 rs1195026291	62	Q>H		No	ClinGen gnomAD
rs375271913 CA4718856	65	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1358163666 CA370736440	68	R>Q		No	ClinGen gnomAD
rs775895631 CA4718855	68	R>W		No	ClinGen ExAC gnomAD
CA370736433 rs1240511730	69	D>G		No	ClinGen gnomAD
CA370736437 rs1309311395	69	D>N		No	ClinGen TOPMed gnomAD
CA370736429 rs140254426	70	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs561300213 CA4718852 RCV000323081	71	V>L		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs879216709 CA175151895	72	Q>P		No	ClinGen Ensembl
rs1039838179 CA175151891	74	A>P		No	ClinGen Ensembl
CA4718851 rs143241978	74	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs912197694 CA175151865	75	E>G		No	ClinGen Ensembl
CA370736403 rs1445020368	75	E>K		No	ClinGen TOPMed
rs777425797 CA4718849	76	S>G		No	ClinGen ExAC TOPMed gnomAD
rs755882398 CA4718848	76	S>T		No	ClinGen ExAC gnomAD
CA4718847 rs752495999	77	N>S		No	ClinGen ExAC gnomAD
rs754968374 CA4718845	78	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1306185959 CA370736377	79	T>A		No	ClinGen gnomAD
rs867481100 CA175151845	79	T>I		No	ClinGen Ensembl
rs751494167 CA4718844	80	R>C		No	ClinGen ExAC TOPMed gnomAD
rs201055054 CA4718843	80	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201574031 CA4718841	81	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs760780809 CA370736360	82	T>I		No	ClinGen ExAC gnomAD
CA4718839 rs760780809	82	T>R		No	ClinGen ExAC gnomAD
rs775969080 CA4718838	83	G>E		No	ClinGen ExAC gnomAD
rs1586376960 CA370736333	86	V>G		No	ClinGen Ensembl
CA370736337 rs1404670039	86	V>M		No	ClinGen gnomAD
CA4718837 rs139867599	88	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4718835 rs773938208	89	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA4718834 rs770577710	90	D>Y		No	ClinGen ExAC gnomAD
rs1486438088 CA370736304	91	S>P		No	ClinGen TOPMed
rs372511659 CA4718830	93	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs150973404 CA175151782	94	A>E		No	ClinGen ESP gnomAD
CA4718828 rs751512391	94	A>S		No	ClinGen ExAC TOPMed gnomAD
CA4718827 rs751512391	94	A>T		No	ClinGen ExAC TOPMed gnomAD
CA370736282 rs1586376081	95	D>A		No	ClinGen Ensembl
rs1586376032 CA370736277	96	S>P		No	ClinGen Ensembl
rs1260404537 CA370736272	97	G>S		No	ClinGen gnomAD
rs1203704169 CA370736266	98	L>I		No	ClinGen gnomAD
CA370736241 rs142638017	101	C>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752855457 CA4718821	104	S>N		No	ClinGen ExAC gnomAD
CA370736218 rs1325974579	105	S>N		No	ClinGen gnomAD
rs1404198159 CA370736210	106	P>L		No	ClinGen gnomAD
CA370736211 rs1454598352	106	P>S		No	ClinGen gnomAD
rs1169626921 CA370736198	108	G>A		No	ClinGen gnomAD
rs1474403980 CA370736193	109	S>N		No	ClinGen gnomAD
rs1183685814 CA370736184	110	D>G		No	ClinGen gnomAD
rs1372382432 CA370736188	110	D>N		No	ClinGen gnomAD
CA370736163 rs1275520154	113	Y>*		No	ClinGen gnomAD
CA370736161 rs1227903216	114	F>I		No	ClinGen TOPMed
CA370736135 rs1447767109	118	V>I		No	ClinGen gnomAD
rs1354935534 CA370736124	119	S>L		No	ClinGen gnomAD
rs755042837 CA4718769	120	D>G		No	ClinGen ExAC gnomAD
CA370736082 rs1307187624	121	A>V		No	ClinGen TOPMed gnomAD
CA370736070 rs1169416110	123	P>L		No	ClinGen TOPMed
CA370736066 rs1201443010	124	S>F		No	ClinGen gnomAD
rs758823379 CA4718766	126	E>D		No	ClinGen ExAC TOPMed gnomAD
rs750795714 CA4718765	127	D>E		No	ClinGen ExAC gnomAD
rs1425815338 CA370736046	127	D>V		No	ClinGen gnomAD
CA175150904 rs77734798	128	D>A		No	ClinGen gnomAD
CA370736040 rs77734798	128	D>G		No	ClinGen gnomAD
rs77734798 CA370736041	128	D>V		No	ClinGen gnomAD
CA370736034 rs765615419	129	D>G		No	ClinGen ExAC TOPMed gnomAD
CA4718763 rs757823218	130	D>N		No	ClinGen ExAC gnomAD
CA175150898 rs562958780	132	D>H		No	ClinGen ExAC TOPMed gnomAD
rs562958780 CA4718761	132	D>N		No	ClinGen ExAC TOPMed gnomAD
rs562958780 CA4718762	132	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA370736004 rs1213683426	133	D>E		No	ClinGen TOPMed
rs1248111718 CA370736009	133	D>H		No	ClinGen TOPMed gnomAD
COSM98903 rs1248111718 COSM98900 CA370736010 COSM98902	133	D>N	stomach [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1181137021 CA370736002	134	S>A		No	ClinGen gnomAD
rs760116083 CA4718757	134	S>F		No	ClinGen ExAC gnomAD
rs760116083 CA370735999	134	S>Y		No	ClinGen ExAC gnomAD
rs767034103 CA4718755	135	S>F		No	ClinGen ExAC TOPMed gnomAD
CA4718756 RCV000731244 rs775228360	135	S>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA370735976 rs1189578264	138	E>G		No	ClinGen TOPMed
rs770745123 CA4718751	139	K>R		No	ClinGen ExAC gnomAD
COSM1456952 COSM1456955 COSM1456953 COSM1456956 rs1315551279 CA370735955	141	T>A	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs773225979 CA4718749	144	T>A		No	ClinGen ExAC gnomAD
rs768880947 CA4718748	144	T>N		No	ClinGen ExAC gnomAD
CA370735922 rs1586350119	146	P>S		No	ClinGen Ensembl
rs780153672 CA4718746	148	R>C		No	ClinGen ExAC TOPMed gnomAD
rs515726222 CA269803	148	R>H		No	ClinGen ExAC TOPMed gnomAD
rs751194353 CA4718719	150	P>H		No	ClinGen ExAC
COSM269171 CA4718745 rs746094709 COSM187237 COSM187238	150	P>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA4718717 rs762665767	151	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1033377277 CA175150681	152	A>S		No	ClinGen gnomAD
rs886042254 RCV000301620 CA10603993	155	W>R		No	ClinGen ClinVar Ensembl dbSNP
CA4718714 rs761727709	158	P>L		No	ClinGen ExAC gnomAD
rs776567959 CA4718713	159	E>G		No	ClinGen ExAC gnomAD
rs1563504256 CA370735804	162	E>G		No	ClinGen Ensembl
CA370735783 rs928639974	165	L>V		No	ClinGen TOPMed
rs772054562 CA4718712	166	H>Y		No	ClinGen ExAC gnomAD
CA370735755 rs1413642890	169	P>L		No	ClinGen gnomAD
rs1586344329 CA370735712	176	F>V		No	ClinGen Ensembl
CA370735705 rs1172942794	177	K>E		No	ClinGen TOPMed
CA370735677 rs1183624798	181	S>G		No	ClinGen gnomAD
CA4718707 rs778166317 COSM1597688 COSM1099648 COSM1099649 COSM1099646	189	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1554567027 CA370735620 RCV000516914	190	W>L		No	ClinGen ClinVar Ensembl dbSNP
rs1348010838 CA370735599	193	N>D		No	ClinGen gnomAD
rs889185980 CA175150580	196	E>K		No	ClinGen Ensembl
rs1260057072 CA370735556	199	P>T		No	ClinGen gnomAD
CA370735548 rs1240845932	200	D>Y		No	ClinGen gnomAD
rs768964257 CA175150579	205	G>S		No	ClinGen Ensembl
rs17851623 VAR_030975 CA175149723	213	W>G		No	ClinGen UniProt Ensembl dbSNP
rs1586315809 RCV001008963	222	P>missing		No	ClinVar dbSNP
rs1246231808 CA370735352	226	G>A		No	ClinGen gnomAD
CA4718672 rs762961614	227	N>S		No	ClinGen ExAC gnomAD
rs765537201 CA4718670	232	V>L		No	ClinGen ExAC
CA4718669 rs761920009	238	S>N		No	ClinGen ExAC gnomAD
rs1586315279 CA370735266	238	S>R		No	ClinGen Ensembl
rs777114323 CA4718668	239	I>V		No	ClinGen ExAC gnomAD
rs768900681 CA4718667	240	N>S		No	ClinGen ExAC
rs771734626 CA4718664	246	D>G		No	ClinGen ExAC gnomAD
CA370735180 rs1402339930	249	E>D		No	ClinGen TOPMed gnomAD
rs1402339930 CA370735181	249	E>D		No	ClinGen TOPMed gnomAD
RCV000223933 CA10581217 rs121909645	250	R>P		No	ClinGen ClinVar Ensembl dbSNP
RCV000481168 rs1064793120 CA16618633	251	S>F		No	ClinGen ClinVar Ensembl dbSNP
CA370735163 rs1586290594	253	H>P		No	ClinGen Ensembl
rs4647901 CA175148927	261	L>F		No	ClinGen Ensembl
CA370735105 rs1196509455	262	P>L		No	ClinGen TOPMed
CA4718639 rs754968289	265	K>Q		No	ClinGen ExAC gnomAD
RCV000518169 rs1554562081	274	E>missing		No	ClinVar dbSNP
rs1443012936 CA370735034	274	E>K		No	ClinGen TOPMed
CA370735021 rs1314424523	275	F>L		No	ClinGen gnomAD
CA370735018 rs1394711867	276	M>V		No	ClinGen gnomAD
RCV000483935 CA16618632 rs1064793121	279	V>G		No	ClinGen ClinVar Ensembl dbSNP
CA370734960 rs1554562012	283	P>L		No	ClinGen Ensembl
rs779380483 CA175148847	285	P>L		No	ClinGen gnomAD
CA4718631 rs767977802	293	I>V		No	ClinGen ExAC gnomAD
rs1586288389 CA370734875	295	V>G		No	ClinGen Ensembl
rs1396391500 CA370734851	299	K>Q		No	ClinGen TOPMed
CA4718628 rs762320540	301	G>D		No	ClinGen ExAC gnomAD
rs896498971 CA175148799	304	N>S		No	ClinGen TOPMed
CA175148787 rs1126485	308	V>A		No	ClinGen Ensembl
rs1586287789 CA370734791	308	V>F		No	ClinGen Ensembl
CA370734397 rs1342243519	313	T>S		No	ClinGen TOPMed
rs755595684 CA4718550	314	A>V		No	ClinGen ExAC gnomAD
CA370734371 rs1434741581	316	V>A		No	ClinGen gnomAD
COSM1099643 COSM1099644 COSM1099642 CA370734345 rs1563475734 COSM1597689	320	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs759233744 CA4718547	327	H>Y		No	ClinGen ExAC gnomAD
rs121909632 CA370734268	330	N>S	Osteoglophonic dysplasia (ogd) [Ensembl]	No	ClinGen gnomAD
CA370734229 rs981703846	336	A>S		No	ClinGen TOPMed gnomAD
CA175144826 rs981703846	336	A>T		No	ClinGen TOPMed gnomAD
rs1064793122 RCV000478577 CA16618631	337	G>E		No	ClinGen ClinVar Ensembl dbSNP
COSM3699071 COSM3699072 CA16618630 RCV000480479 COSM3699070 COSM3699069 rs1064793123	340	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA370734157 rs1563475202	347	I>V		No	ClinGen Ensembl
CA4718542 rs764101526	350	S>T		No	ClinGen ExAC gnomAD
rs1310331035 CA370734133	351	H>Y		No	ClinGen gnomAD
CA370734086 rs1563474774	357	T>S		No	ClinGen Ensembl
CA370734079 rs1380308168	359	L>V		No	ClinGen gnomAD
rs982371464 RCV000484860 CA16618629	360	E>K		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs771811718 CA4718482	361	A>D		No	ClinGen ExAC TOPMed gnomAD
rs768918396 CA4718481	362	L>P		No	ClinGen ExAC TOPMed gnomAD
CA4718478 rs753838219	366	P>S		No	ClinGen ExAC gnomAD
CA4718476 rs756016701	367	A>S		No	ClinGen ExAC gnomAD
CA370734006 rs1324436328	367	A>V		No	ClinGen TOPMed gnomAD
rs1317322082 CA370734000	368	V>M		No	ClinGen gnomAD
rs1404194266 CA370733987	369	M>I		No	ClinGen gnomAD
CA370733988 rs1404194266	369	M>I		No	ClinGen gnomAD
rs751688900 CA370733991	369	M>K		No	ClinGen ExAC TOPMed gnomAD
rs751688900 CA4718475	369	M>T		No	ClinGen ExAC TOPMed gnomAD
rs961818413 CA175143043	371	S>L		No	ClinGen TOPMed
CA4718472 rs377648976	372	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs984502740 CA175143022	375	L>V		No	ClinGen gnomAD
rs1356366120 CA370733945	377	I>F		No	ClinGen Ensembl
CA4718471 rs374135854	379	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs777103792 CA4718469	380	Y>C		No	ClinGen ExAC gnomAD
RCV000729386 CA370733925 rs1563464248	380	Y>H		No	ClinGen ClinVar Ensembl dbSNP
rs1028642828 COSM1099637 COSM1099636 COSM1099638 COSM1597690 CA175142976	382	T>I	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1288519915 CA370733902	383	G>A		No	ClinGen gnomAD
rs1210327784 CA370733900	384	A>P		No	ClinGen TOPMed gnomAD
rs1210327784 CA370733899	384	A>S		No	ClinGen TOPMed gnomAD
CA4718467 rs761247988	386	L>F		No	ClinGen ExAC gnomAD
CA4718466 rs768687116	387	I>V		No	ClinGen ExAC gnomAD
CA4718465 rs370205081	388	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs376921992 CA4718464	390	M>V		No	ClinGen ESP ExAC gnomAD
rs527372786 CA4718463	391	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370733854 rs202073071	391	V>L		No	ClinGen TOPMed gnomAD
CA175142944 rs202073071	391	V>M		No	ClinGen TOPMed gnomAD
rs369059499 CA4718461	393	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs752627281 CA4718458	396	V>I		No	ClinGen ExAC TOPMed gnomAD
CA370733822 rs1395234901	397	Y>H		No	ClinGen gnomAD
CA370733812 rs1164263883	398	K>E		No	ClinGen gnomAD
rs1473969370 CA370733810	398	K>R		No	ClinGen gnomAD
rs1586199517 CA370733800	399	M>I		No	ClinGen Ensembl
rs1416395686 CA370733806	399	M>V		No	ClinGen TOPMed gnomAD
CA370733784 rs1187822240	401	S>I		No	ClinGen gnomAD
CA370733785 rs1187822240	401	S>T		No	ClinGen gnomAD
CA370733750 rs1586199308	406	S>N		No	ClinGen Ensembl
CA175142927 rs369529821	408	F>L		No	ClinGen Ensembl
rs758359914 CA4718455	409	H>Q		No	ClinGen ExAC gnomAD
CA370733721 rs1441745837	410	S>G		No	ClinGen TOPMed
rs750688817 CA4718454	410	S>N		No	ClinGen ExAC TOPMed gnomAD
rs765415311 CA4718453	412	M>V		No	ClinGen ExAC gnomAD
rs1210272196 CA370733672	414	V>M		No	ClinGen gnomAD
rs1271245426 CA370733610	418	A>V		No	ClinGen gnomAD
CA370733602 rs1232639613	419	K>R		No	ClinGen gnomAD
rs1289681665 CA370733583	420	S>N		No	ClinGen TOPMed gnomAD
CA4718449 rs369096310	424	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs183376882 CA4718448	424	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4718447 rs767080647	425	R>I		No	ClinGen ExAC gnomAD
rs1302224608 CA370733442	431	A>T		No	ClinGen gnomAD
CA175141986 rs375914079	434	S>G		No	ClinGen ESP TOPMed
CA4718424 rs772794963	434	S>R		No	ClinGen ExAC gnomAD
rs769607850 CA4718423	435	A>V		No	ClinGen ExAC gnomAD
CA4718422 rs747976513	436	S>C		No	ClinGen ExAC gnomAD
rs1281168958 CA370733405	437	M>V		No	ClinGen Ensembl
CA4718420 rs768532728	439	S>C		No	ClinGen ExAC gnomAD
rs778861510 CA175141953	441	V>F		No	ClinGen ExAC gnomAD
rs778861510 CA4718418	441	V>I		No	ClinGen ExAC gnomAD
rs778104598 CA4718416	442	L>F		No	ClinGen ExAC TOPMed gnomAD
rs778104598 CA4718415	442	L>V		No	ClinGen ExAC TOPMed gnomAD
CA4718414 rs756375285	443	L>P		No	ClinGen ExAC TOPMed gnomAD
COSM3358260 COSM3358264 CA4718411 rs367715495 COSM3358261 COSM3358262	445	R>Q	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs781608303 CA4718412 COSM750445 COSM1151112 COSM750447 COSM750446	445	R>W	lung large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA4718409 rs765888792	446	P>L		No	ClinGen ExAC TOPMed gnomAD
rs752038121 CA4718410	446	P>S		No	ClinGen ExAC gnomAD
COSM1580903 CA175141858 COSM1580905 rs374672119 COSM1580904 COSM1580906	451	S>C	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
rs948384958 CA370733327	452	S>C		No	ClinGen gnomAD
rs948384958 CA175141839	452	S>R		No	ClinGen gnomAD
CA4718403 rs575766741	455	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs575766741 CA370733308	455	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768428215 COSM311189 COSM311187 COSM311188 CA4718402	456	M>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs985869735 CA175141806	458	A>T		No	ClinGen TOPMed
rs1463733617 CA370733283	459	G>A		No	ClinGen gnomAD
CA4718400 rs775445657	460	V>F		No	ClinGen ExAC TOPMed gnomAD
CA370733281 rs775445657	460	V>I		No	ClinGen ExAC TOPMed gnomAD
CA4718399 rs367955950	462	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA4718397 rs746082633	463	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA370733248 rs1189940197	465	L>I		No	ClinGen gnomAD
rs923019674 CA175141774	467	E>K		No	ClinGen TOPMed gnomAD
rs781310679 CA4718395	470	R>C		No	ClinGen ExAC TOPMed gnomAD
rs121909637 CA4718394	470	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4718392 rs780577173	473	L>V		No	ClinGen ExAC
CA4718391 rs575227358	474	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs747333248 RCV000514316 CA4718390	475	R>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1275391593 CA370733172	477	R>K		No	ClinGen gnomAD
rs778403497 CA4718369	481	G>S		No	ClinGen ExAC gnomAD
rs753460572 CA4718367	483	P>R		No	ClinGen ExAC gnomAD
rs397515444 CA4718368	483	P>S		No	ClinGen ExAC gnomAD
rs869025670 CA357149	490	G>R	Hartsfield syndrome (hrtfds) [Ensembl]	No	ClinGen Ensembl
CA4718364 rs752601407	493	V>M		No	ClinGen ExAC gnomAD
rs938924493 CA175141499	497	A>P		No	ClinGen gnomAD
rs938924493 CA370733039	497	A>T		No	ClinGen gnomAD
rs1192215028 CA370733035	497	A>V		No	ClinGen gnomAD
CA4718363 rs767419329	498	I>V		No	ClinGen ExAC TOPMed gnomAD
CA370733026 rs1485152215	499	G>E		No	ClinGen gnomAD
rs1260234772 CA370733022	500	L>V		No	ClinGen gnomAD
CA370733014 rs1233979323	501	D>G		No	ClinGen gnomAD
rs1586171758 CA370733006	502	K>R		No	ClinGen Ensembl
CA4718360 rs372521005	503	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs572845338 CA4718359	506	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA175141483 rs572845338	506	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370732974 rs776549085	507	R>C		No	ClinGen ExAC gnomAD
rs776549085 CA4718358	507	R>S		No	ClinGen ExAC gnomAD
CA370732941 rs1440198956	512	A>G		No	ClinGen TOPMed
CA4718355 rs77988343	513	V>A		No	ClinGen ExAC gnomAD
CA4718354 rs77988343	513	V>G		No	ClinGen ExAC gnomAD
RCV000489322 rs1085307722 CA370732939	513	V>M		No	ClinGen ClinVar Ensembl dbSNP
CA175141446 rs199573818	514	K>E		No	ClinGen Ensembl
rs746392282 CA4718353	515	M>T		No	ClinGen ExAC gnomAD
CA4718335 rs774678297	518	S>L		No	ClinGen ExAC TOPMed gnomAD
CA175141105 rs1035376815	522	E>K		No	ClinGen Ensembl
CA370732390 rs1255503690	524	D>A		No	ClinGen gnomAD
RCV000627342 CA370732314 rs1554551706	530	S>*		No	ClinGen ClinVar Ensembl dbSNP
rs777345476 CA4718332 RCV000481922	532	M>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA175141095 rs530348127	534	M>V		No	ClinGen 1000Genomes TOPMed gnomAD
CA4718331 rs769129551	537	M>V		No	ClinGen ExAC gnomAD
rs747825610 CA175141090	538	I>M		No	ClinGen ExAC TOPMed gnomAD
rs780953869 CA4718329	539	G>E		No	ClinGen ExAC gnomAD
rs559692139 CA4718328	541	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1336044788 CA370732095	545	I>L		No	ClinGen gnomAD
CA4718325 rs758360392	547	L>V		No	ClinGen ExAC gnomAD
CA370732056 rs1563450187	549	G>E		No	ClinGen Ensembl
CA4718323 rs764252845	551	C>S		No	ClinGen ExAC TOPMed gnomAD
rs760702592 CA4718322	552	T>M		No	ClinGen ExAC gnomAD
CA16605479 RCV000437928 rs1057524808	554	D>N		No	ClinGen ClinVar Ensembl dbSNP
rs1340570003 CA370731930	555	G>V		No	ClinGen TOPMed
CA370731922 rs1243758431	556	P>L		No	ClinGen gnomAD
RCV000722312 rs1280366603 CA370731915	557	L>F		No	ClinGen ClinVar dbSNP gnomAD
rs762402991 CA4718295	560	I>T		No	ClinGen ExAC gnomAD
CA4718293 rs768223019	565	S>C		No	ClinGen ExAC gnomAD
rs531903077 COSM94315 CA175139944	566	K>R	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes gnomAD
rs1399523084 CA370731833	570	R>Q		No	ClinGen gnomAD
CA4718290 rs771720144	571	E>K		No	ClinGen ExAC gnomAD
rs903239767 CA175139925	574	Q>R		No	ClinGen TOPMed
CA370731801 rs1563442835	575	A>S		No	ClinGen Ensembl
rs1554549926 RCV000599340	575	A>missing		No	ClinVar dbSNP
rs1482868825 CA370731794	576	R>Q		No	ClinGen TOPMed
CA175139918 rs1054035612	579	P>A		No	ClinGen Ensembl
CA370731775 rs1175162486	579	P>L		No	ClinGen gnomAD
rs1054035612 CA370731778	579	P>S		No	ClinGen Ensembl
CA370731772 rs1410298719	580	G>W		No	ClinGen gnomAD
rs1563442574 CA370731762	582	E>Q		No	ClinGen Ensembl
CA4718289 rs745696130	584	C>W		No	ClinGen ExAC gnomAD
CA370731739 rs1477426230	585	Y>H		No	ClinGen gnomAD
rs757254917 CA4718288	586	N>I		No	ClinGen ExAC gnomAD
CA4718287 rs757254917	586	N>T		No	ClinGen ExAC gnomAD
rs1563442408 CA370731724	587	P>S		No	ClinGen Ensembl
RCV000414346 rs1057518218	588	S>missing		No	ClinVar dbSNP
rs1484524877 CA370731706	589	H>Q		No	ClinGen gnomAD
CA370731708 rs1586136387	589	H>R		No	ClinGen Ensembl
CA370731704 rs1271149897	590	N>D		No	ClinGen TOPMed
CA4718285 rs781268209	591	P>L		No	ClinGen ExAC gnomAD
rs751840290 CA370731688	592	E>A		No	ClinGen ExAC TOPMed gnomAD
rs926779719 CA175139838	592	E>D		No	ClinGen Ensembl
rs751840290 CA4718283	592	E>G		No	ClinGen ExAC TOPMed gnomAD
rs755002934 CA4718284	592	E>K		No	ClinGen ExAC gnomAD
CA370731686 rs1271277323	593	E>K		No	ClinGen gnomAD
rs1373408534 CA370731675	594	Q>R		No	ClinGen TOPMed
CA370731660 rs1463369542	596	S>Y		No	ClinGen TOPMed
CA370731649 rs1336034253	598	K>T		No	ClinGen TOPMed gnomAD
CA175139831 rs866906610	600	L>M		No	ClinGen Ensembl
CA370731615 rs1424914793	603	C>S		No	ClinGen TOPMed
rs1412996644 CA370731612	604	A>T		No	ClinGen gnomAD
CA4718277 rs765629435	609	R>Q		No	ClinGen ExAC gnomAD
rs1343172545 CA370731561	612	E>Q		No	ClinGen TOPMed
CA370731547 RCV000521212 rs1554549628	613	Y>*		No	ClinGen ClinVar Ensembl dbSNP
rs1064793124 RCV000484557 CA16618628	613	Y>C		No	ClinGen ClinVar Ensembl dbSNP
rs777228638 CA4718275	615	A>S		No	ClinGen ExAC gnomAD
rs544967630 CA4718238	635	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs544967630 CA4718237	635	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370730255 rs1586112776 RCV000991987	645	A>V		No	ClinGen ClinVar Ensembl dbSNP
CA370730239 rs1484920710	646	R>Q		No	ClinGen gnomAD
rs1388442293 COSM605536 CA370730236 COSM605535 COSM1145035 COSM605537	647	D>N	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA370730211 rs1418900462	648	I>T		No	ClinGen Ensembl
CA370730216 rs1466727439	648	I>V		No	ClinGen TOPMed
rs1211901113 CA370730203	649	H>N		No	ClinGen gnomAD
CA370730160 rs1350237414	651	I>V		No	ClinGen gnomAD
rs764253969 CA175138798	652	D>E		No	ClinGen Ensembl
CA4718230 rs751038400	652	D>N		No	ClinGen ExAC gnomAD
CA370730133 rs751038400	652	D>Y		No	ClinGen ExAC gnomAD
CA4718229 rs577599441	653	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA370729975 rs1360444997	659	N>D		No	ClinGen TOPMed gnomAD
CA370729964 rs1337818472	659	N>S		No	ClinGen TOPMed gnomAD
CA4718204 rs776264072	661	R>G		No	ClinGen ExAC gnomAD
rs1257312391 CA370729808	661	R>Q		No	ClinGen gnomAD
rs1057518620 CA16042637 RCV000414726	664	V>M		No	ClinGen ClinVar Ensembl dbSNP
CA370729739 rs1281881752	665	K>N		No	ClinGen TOPMed gnomAD
rs1427855487 CA370729750	665	K>R		No	ClinGen TOPMed
CA370729720 rs1489129465	666	W>L		No	ClinGen gnomAD
rs771078736 COSM1207083 COSM1207084 CA370729514 COSM1207085 COSM1207086	675	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed
RCV000493180 CA4718201 rs375611478	675	R>W		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1435328508 CA370729437	679	H>Y		No	ClinGen TOPMed
RCV000657784 CA370729173 rs1554547400	684	W>*		No	ClinGen ClinVar Ensembl dbSNP
rs1586100690 CA370729195 COSM3834667	684	W>G	breast [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1057518060 RCV000413066 CA16042715	688	V>L		No	ClinGen ClinVar Ensembl dbSNP
CA16605223 rs1057524546 RCV000430948	691	W>C		No	ClinGen ClinVar Ensembl dbSNP
CA4718181 rs763166714	693	I>V		No	ClinGen ExAC gnomAD
rs1352457632 CA370728819	701	Y>C		No	ClinGen gnomAD
rs1366165565 CA370728773	703	G>A		No	ClinGen gnomAD
CA4718172 rs745441616	714	K>R		No	ClinGen ExAC TOPMed gnomAD
rs778281261 CA4718171	715	E>D		No	ClinGen ExAC gnomAD
CA370728530 rs1376273429	717	H>R		No	ClinGen gnomAD
rs1057520536 CA16606093 RCV000423621	718	R>G		No	ClinGen ClinVar Ensembl dbSNP
rs1415925468 CA370728515	718	R>H		No	ClinGen gnomAD
rs753372445 CA4718169	721	K>Q		No	ClinGen ExAC gnomAD
rs755934643 CA4718167	723	S>N		No	ClinGen ExAC gnomAD
rs1190864622 CA370728413	724	N>Y		No	ClinGen gnomAD
rs1409446474 CA370728383	726	T>A		No	ClinGen TOPMed
CA370728360 rs1257744746	727	N>S		No	ClinGen gnomAD
rs759382055 CA4718164	728	E>K		No	ClinGen ExAC gnomAD
rs1044312216 CA175138025	731	M>T		No	ClinGen TOPMed
CA175138037 rs560927853	731	M>V		No	ClinGen 1000Genomes gnomAD
CA4718142 rs760882547	734	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1329256283 CA370728163	734	R>W		No	ClinGen gnomAD
CA370728077 rs1166216167	739	A>T		No	ClinGen gnomAD
CA370728069 rs1444167285	739	A>V		No	ClinGen gnomAD
COSM1154992 CA370728036 rs1412615365 COSM1099622 COSM1099623	741	P>H	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs760108543 CA4718139	746	T>N		No	ClinGen ExAC gnomAD
rs1219463859 CA370727811	756	R>C		No	ClinGen gnomAD
CA4718135 rs374473310	756	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1210419471 CA370727750	759	A>V		No	ClinGen TOPMed
CA4718130 rs746786094	763	N>K		No	ClinGen ExAC gnomAD
CA175137975 rs771672913	763	N>S		No	ClinGen Ensembl
CA370727671 rs121909643	764	Q>H		No	ClinGen TOPMed
rs1396211501 CA370727600	767	L>M		No	ClinGen gnomAD
rs149979921 CA175137781	767	L>R		No	ClinGen Ensembl
rs121909644 CA370727589	768	D>N		No	ClinGen TOPMed
rs2956723 CA175137778 VAR_031009	769	L>V		No	ClinGen UniProt Ensembl dbSNP
rs751937328 CA370727561	770	S>C		No	ClinGen ExAC gnomAD
CA4718100 rs751937328	770	S>F		No	ClinGen ExAC gnomAD
rs1466028968 CA370727544	771	M>I		No	ClinGen TOPMed gnomAD
CA370727555 rs1301403995	771	M>V		No	ClinGen gnomAD
CA201426 rs56234888 VAR_017892	772	P>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA370727537 rs56234888	772	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1586087834 CA370727516	774	D>N		No	ClinGen Ensembl
rs1232665126 CA370727497	775	Q>E		No	ClinGen TOPMed
rs1172958596 CA370727486	775	Q>H		No	ClinGen gnomAD
CA370727470 rs1330993385	776	Y>*		No	ClinGen TOPMed
CA370727472 rs1330993385	776	Y>*		No	ClinGen TOPMed
CA370727477 rs1307564234	776	Y>S		No	ClinGen gnomAD
CA370727460 rs1213419262	777	S>F		No	ClinGen TOPMed
CA370727446 rs1483382491	778	P>L		No	ClinGen TOPMed
rs773808959 CA370727430	779	S>R		No	ClinGen ExAC gnomAD
rs764873744 CA4718097	780	F>S		No	ClinGen ExAC
CA4718095 rs776189467	782	D>N		No	ClinGen ExAC TOPMed gnomAD
COSM1099619 rs746602135 CA4718093 COSM1597694 COSM1099620	784	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4718092 rs775161322	786	S>C		No	ClinGen ExAC gnomAD
CA175137725 rs867532966	787	T>A		No	ClinGen Ensembl
CA4718090 rs555706876	787	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1421199406 CA370726897	790	S>L		No	ClinGen TOPMed
CA175137709 rs989394574	793	D>N		No	ClinGen TOPMed gnomAD
rs1345998282 CA370726874	794	S>T		No	ClinGen Ensembl
rs755160898 CA4718084	798	H>R		No	ClinGen ExAC TOPMed gnomAD
rs765900637 CA4718079	803	E>*		No	ClinGen ExAC TOPMed gnomAD
rs765900637 COSM3834662 CA175137665 COSM3834660 COSM3834661	803	E>K	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1238519686 CA370726810	804	E>K		No	ClinGen gnomAD
rs1456342214 CA370726803	805	P>A		No	ClinGen TOPMed gnomAD
rs1456342214 CA370726802	805	P>S		No	ClinGen TOPMed gnomAD
rs763600740 CA4718076	806	C>*		No	ClinGen ExAC gnomAD
CA4718077 rs753288703	806	C>Y		No	ClinGen ExAC gnomAD
rs775166971 CA4718074	809	R>*		No	ClinGen ExAC TOPMed gnomAD
CA4718073 rs771680156	809	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA370726777 rs759376422	810	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA370726769 rs1324331483	811	P>A		No	ClinGen TOPMed gnomAD
rs774120844 CA4718071	811	P>R		No	ClinGen ExAC gnomAD
rs749184176 CA370726753	813	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1162921288 CA370726740	816	N>H		No	ClinGen gnomAD
rs1437821654 CA370726724	818	G>E		No	ClinGen gnomAD
rs17182456 CA175137602 COSM1099616 COSM1099617 COSM1154991 VAR_019291	818	G>R	endometrium [Cosmic]	No	ClinGen cosmic curated UniProt TOPMed dbSNP gnomAD
CA4718067 rs768736835	821	R>C		No	ClinGen ExAC TOPMed gnomAD
rs747228916 CA4718066	821	R>H		No	ClinGen ExAC gnomAD

8 associated diseases with P11362

[MIM: 101600]: Pfeiffer syndrome (PS)

A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known

[MIM: 147950]: Hypogonadotropic hypogonadism 2 with or without anosmia (HH2)

A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). {ECO:0000269|PubMed:12627230, ECO:0000269|PubMed:15001591, ECO:0000269|PubMed:15605412, ECO:0000269|PubMed:15845591, ECO:0000269|PubMed:16606836, ECO:0000269|PubMed:16757108, ECO:0000269|PubMed:16764984, ECO:0000269|PubMed:16882753, ECO:0000269|PubMed:17154279, ECO:0000269|PubMed:19820032, ECO:0000269|PubMed:21700882, ECO:0000269|PubMed:22927827, ECO:0000269|PubMed:23643382, ECO:0000269|PubMed:25077900, ECO:0000269|PubMed:26277103}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. Some patients carrying mutations in FGFR1 also have a mutation other HH-associated genes including DUSP6, FGF8, FGF17, FLRT3, GNRH1, GNRHR, HS6ST1, IL17RD, ANOS1, KISS1R, NSMF, PROKR2, SPRY4 and TACR3 (PubMed:23643382). {ECO:0000269|PubMed:23643382}.

[MIM: 166250]: Osteoglophonic dysplasia (OGD)

Characterized by craniosynostosis, prominent supraorbital ridge, and depressed nasal bridge, as well as by rhizomelic dwarfism and nonossifying bone lesions. Inheritance is autosomal dominant. {ECO:0000269|PubMed:15625620, ECO:0000269|PubMed:16470795}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 615465]: Hartsfield syndrome (HRTFDS)

A syndrome characterized by the triad of holoprosencephaly, ectrodactyly, and cleft/lip palate. Profound intellectual disability is also present. Multiple other congenital anomalies usually occur. {ECO:0000269|PubMed:23812909, ECO:0000269|PubMed:24888332}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 190440]: Trigonocephaly 1 (TRIGNO1)

A keel-shaped deformation of the forehead, caused by premature fusion of the metopic sutures. It results in a triangular shape of the head. {ECO:0000269|PubMed:11173846}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 613001]: Encephalocraniocutaneous lipomatosis (ECCL)

A sporadically occurring, neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system anomalies. Clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, intracranial and intraspinal lipomas, and congenital abnormalities of the meninges. Seizures, spasticity, and intellectual disability can be present. {ECO:0000269|PubMed:19224897, ECO:0000269|PubMed:26942290}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 123150]: Jackson-Weiss syndrome (JWS)

An autosomal dominant craniosynostosis syndrome characterized by craniofacial abnormalities and abnormality of the feet

Without disease ID

A syndrome characterized by the association of craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Three subtypes are known
A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH). {ECO:0000269|PubMed:12627230, ECO:0000269|PubMed:15001591, ECO:0000269|PubMed:15605412, ECO:0000269|PubMed:15845591, ECO:0000269|PubMed:16606836, ECO:0000269|PubMed:16757108, ECO:0000269|PubMed:16764984, ECO:0000269|PubMed:16882753, ECO:0000269|PubMed:17154279, ECO:0000269|PubMed:19820032, ECO:0000269|PubMed:21700882, ECO:0000269|PubMed:22927827, ECO:0000269|PubMed:23643382, ECO:0000269|PubMed:25077900, ECO:0000269|PubMed:26277103}. Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry. Some patients carrying mutations in FGFR1 also have a mutation other HH-associated genes including DUSP6, FGF8, FGF17, FLRT3, GNRH1, GNRHR, HS6ST1, IL17RD, ANOS1, KISS1R, NSMF, PROKR2, SPRY4 and TACR3 (PubMed:23643382). {ECO:0000269|PubMed:23643382}.
Characterized by craniosynostosis, prominent supraorbital ridge, and depressed nasal bridge, as well as by rhizomelic dwarfism and nonossifying bone lesions. Inheritance is autosomal dominant. {ECO:0000269|PubMed:15625620, ECO:0000269|PubMed:16470795}. Note=The disease is caused by variants affecting the gene represented in this entry.
A syndrome characterized by the triad of holoprosencephaly, ectrodactyly, and cleft/lip palate. Profound intellectual disability is also present. Multiple other congenital anomalies usually occur. {ECO:0000269|PubMed:23812909, ECO:0000269|PubMed:24888332}. Note=The disease is caused by variants affecting the gene represented in this entry.
A keel-shaped deformation of the forehead, caused by premature fusion of the metopic sutures. It results in a triangular shape of the head. {ECO:0000269|PubMed:11173846}. Note=The disease is caused by variants affecting the gene represented in this entry.
A sporadically occurring, neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system anomalies. Clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, intracranial and intraspinal lipomas, and congenital abnormalities of the meninges. Seizures, spasticity, and intellectual disability can be present. {ECO:0000269|PubMed:19224897, ECO:0000269|PubMed:26942290}. Note=The disease is caused by variants affecting the gene represented in this entry.
An autosomal dominant craniosynostosis syndrome characterized by craniofacial abnormalities and abnormality of the feet

18 regional properties for P11362

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	478 - 767	IPR000719
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	479 - 754	IPR001245
domain	Immunoglobulin subtype 2	46 - 108	IPR003598-1
domain	Immunoglobulin subtype 2	169 - 237	IPR003598-2
domain	Immunoglobulin subtype 2	268 - 348	IPR003598-3
domain	Immunoglobulin subtype	40 - 119	IPR003599-1
domain	Immunoglobulin subtype	163 - 248	IPR003599-2
domain	Immunoglobulin subtype	262 - 359	IPR003599-3
domain	Immunoglobulin-like domain	25 - 119	IPR007110-1
domain	Immunoglobulin-like domain	158 - 246	IPR007110-2
domain	Immunoglobulin-like domain	255 - 357	IPR007110-3
active_site	Tyrosine-protein kinase, active site	619 - 631	IPR008266
domain	Immunoglobulin I-set	169 - 247	IPR013098-1
domain	Immunoglobulin I-set	262 - 358	IPR013098-2
domain	Immunoglobulin	43 - 115	IPR013151
binding_site	Protein kinase, ATP binding site	484 - 514	IPR017441
domain	Tyrosine-protein kinase, catalytic domain	478 - 754	IPR020635
domain	Fibroblast growth factor receptor 1, catalytic domain	464 - 765	IPR028174

Functions

		Description
EC Number	2.7.10.1	Protein-tyrosine kinases
Subcellular Localization	Cell membrane; Single-pass type I membrane protein Nucleus Cytoplasm, cytosol Cytoplasmic vesicle	After ligand binding, both receptor and ligand are rapidly internalized Can translocate to the nucleus after internalization, or by translocation from the endoplasmic reticulum or Golgi apparatus to the cytosol, and from there to the nucleus
PANTHER Family	PTHR24416	TYROSINE-PROTEIN KINASE RECEPTOR
PANTHER Subfamily	PTHR24416:SF131	FIBROBLAST GROWTH FACTOR RECEPTOR 1
PANTHER Protein Class	transmembrane signal receptor
PANTHER Pathway Category	FGF signaling pathway FGFR1-4 Angiogenesis FGFR-1

8 GO annotations of cellular component

Name	Definition
cytoplasmic vesicle	A vesicle found in the cytoplasm of a cell.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
receptor complex	Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

10 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
fibroblast growth factor binding	Binding to a fibroblast growth factor.
fibroblast growth factor-activated receptor activity	Combining with a fibroblast growth factor receptor ligand and transmitting the signal across the plasma membrane to initiate a change in cell activity.
heparin binding	Binding to heparin, a member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues.
identical protein binding	Binding to an identical protein or proteins.
protein homodimerization activity	Binding to an identical protein to form a homodimer.
protein serine/threonine/tyrosine kinase activity	Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
protein tyrosine kinase activity	Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
receptor-receptor interaction	The aggregation, arrangement and bonding together of two or more different receptor complexes that individually undergo combination with a hormone, neurotransmitter, drug or intracellular messenger to form a higher level receptor complex. The formation of the higher level complex initiates a change in cell function.
transmembrane receptor protein tyrosine kinase activity	Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate.

28 GO annotations of biological process

Name	Definition
cell migration	The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
chordate embryonic development	The process whose specific outcome is the progression of the embryo over time, from zygote formation through a stage including a notochord and neural tube until birth or egg hatching.
epithelial to mesenchymal transition	A transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.
fibroblast growth factor receptor signaling pathway	The series of molecular signals generated as a consequence of a fibroblast growth factor receptor binding to one of its physiological ligands.
MAPK cascade	An intracellular protein kinase cascade containing at least a MAPK, a MAPKK and a MAP3K. The cascade can also contain an additional tiers: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell.
neuron migration	The characteristic movement of an immature neuron from germinal zones to specific positions where they will reside as they mature.
peptidyl-tyrosine phosphorylation	The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine.
phosphatidylinositol-mediated signaling	The series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives.
positive regulation of blood vessel endothelial cell migration	Any process that activates or increases the frequency, rate or extent of the migration of the endothelial cells of blood vessels.
positive regulation of cell differentiation	Any process that activates or increases the frequency, rate or extent of cell differentiation.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.
positive regulation of endothelial cell chemotaxis to fibroblast growth factor	Any process that activates or increases the frequency, rate or extent of endothelial cell chemotaxis to fibroblast growth factor.
positive regulation of kinase activity	Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.
positive regulation of MAP kinase activity	Any process that activates or increases the frequency, rate or extent of MAP kinase activity.
positive regulation of MAPK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of neuron differentiation	Any process that activates or increases the frequency, rate or extent of neuron differentiation.
positive regulation of phosphatidylinositol 3-kinase signaling	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade.
positive regulation of phospholipase activity	Any process that increases the frequency, rate or extent of phospholipase activity, the hydrolysis of a phospholipid.
positive regulation of phospholipase C activity	Any process that increases the rate of phospholipase C activity.
positive regulation of protein kinase B signaling	Any process that activates or increases the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B.
positive regulation of vascular endothelial cell proliferation	Any process that activates or increases the frequency, rate or extent of vascular endothelial cell proliferation.
protein autophosphorylation	The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation).
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of cell differentiation	Any process that modulates the frequency, rate or extent of cell differentiation, the process in which relatively unspecialized cells acquire specialized structural and functional features.
regulation of extrinsic apoptotic signaling pathway in absence of ligand	Any process that modulates the frequency, rate or extent of extrinsic apoptotic signaling pathway in absence of ligand.
skeletal system development	The process whose specific outcome is the progression of the skeleton over time, from its formation to the mature structure. The skeleton is the bony framework of the body in vertebrates (endoskeleton) or the hard outer envelope of insects (exoskeleton or dermoskeleton).
skeletal system morphogenesis	The process in which the anatomical structures of the skeleton are generated and organized.
transmembrane receptor protein tyrosine kinase signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.

99 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P43481	KIT	Mast/stem cell growth factor receptor Kit	Bos taurus (Bovine)	SS
Q06805	TIE1	Tyrosine-protein kinase receptor Tie-1	Bos taurus (Bovine)	PR
Q06807	TEK	Angiopoietin-1 receptor	Bos taurus (Bovine)	SS
Q28889	KIT	Mast/stem cell growth factor receptor Kit	Felis catus (Cat) (Felis silvestris catus)	SS
P13369	CSF1R	Macrophage colony-stimulating factor 1 receptor	Felis catus (Cat) (Felis silvestris catus)	SS
Q9PUF6	PDGFRA	Platelet-derived growth factor receptor alpha	Gallus gallus (Chicken)	SS
Q08156	KIT	Mast/stem cell growth factor receptor Kit	Gallus gallus (Chicken)	SS
Q8QHL3	FLT1	Vascular endothelial growth factor receptor 1	Gallus gallus (Chicken)	SS
P18460	FGFR3	Fibroblast growth factor receptor 3	Gallus gallus (Chicken)	SS
P18461	FGFR2	Fibroblast growth factor receptor 2	Gallus gallus (Chicken)	SS
P21804	FGFR1	Fibroblast growth factor receptor 1	Gallus gallus (Chicken)	SS
Q07407	htl	Fibroblast growth factor receptor homolog 1	Drosophila melanogaster (Fruit fly)	PR
Q6J9G0	STYK1	Tyrosine-protein kinase STYK1	Homo sapiens (Human)	PR
P07949	RET	Proto-oncogene tyrosine-protein kinase receptor Ret	Homo sapiens (Human)	EV
O15146	MUSK	Muscle, skeletal receptor tyrosine-protein kinase	Homo sapiens (Human)	EV
Q01974	ROR2	Tyrosine-protein kinase transmembrane receptor ROR2	Homo sapiens (Human)	EV
Q01973	ROR1	Inactive tyrosine-protein kinase transmembrane receptor ROR1	Homo sapiens (Human)	PR
Q16832	DDR2	Discoidin domain-containing receptor 2	Homo sapiens (Human)	SS
Q08345	DDR1	Epithelial discoidin domain-containing receptor 1	Homo sapiens (Human)	EV
Q16620	NTRK2	BDNF/NT-3 growth factors receptor	Homo sapiens (Human)	EV
P04629	NTRK1	High affinity nerve growth factor receptor	Homo sapiens (Human)	EV
Q16288	NTRK3	NT-3 growth factor receptor	Homo sapiens (Human)	SS
P35916	FLT4	Vascular endothelial growth factor receptor 3	Homo sapiens (Human)	SS
P17948	FLT1	Vascular endothelial growth factor receptor 1	Homo sapiens (Human)	SS
P35968	KDR	Vascular endothelial growth factor receptor 2	Homo sapiens (Human)	EV
P29317	EPHA2	Ephrin type-A receptor 2	Homo sapiens (Human)	SS
P21709	EPHA1	Ephrin type-A receptor 1	Homo sapiens (Human)	SS
P54760	EPHB4	Ephrin type-B receptor 4	Homo sapiens (Human)	SS
P29376	LTK	Leukocyte tyrosine kinase receptor	Homo sapiens (Human)	SS
Q9UM73	ALK	ALK tyrosine kinase receptor	Homo sapiens (Human)	EV
P08922	ROS1	Proto-oncogene tyrosine-protein kinase ROS	Homo sapiens (Human)	SS
P14616	INSRR	Insulin receptor-related protein	Homo sapiens (Human)	SS
P08069	IGF1R	Insulin-like growth factor 1 receptor	Homo sapiens (Human)	EV
P06213	INSR	Insulin receptor	Homo sapiens (Human)	EV
P21802	FGFR2	Fibroblast growth factor receptor 2	Homo sapiens (Human)	EV
P22455	FGFR4	Fibroblast growth factor receptor 4	Homo sapiens (Human)	SS
P22607	FGFR3	Fibroblast growth factor receptor 3	Homo sapiens (Human)	EV
Q12866	MERTK	Tyrosine-protein kinase Mer	Homo sapiens (Human)	EV
Q04912	MST1R	Macrophage-stimulating protein receptor	Homo sapiens (Human)	EV
P30530	AXL	Tyrosine-protein kinase receptor UFO	Homo sapiens (Human)	PR
Q06418	TYRO3	Tyrosine-protein kinase receptor TYRO3	Homo sapiens (Human)	SS
P08581	MET	Hepatocyte growth factor receptor	Homo sapiens (Human)	EV
P04626	ERBB2	Receptor tyrosine-protein kinase erbB-2	Homo sapiens (Human)	SS
Q15303	ERBB4	Receptor tyrosine-protein kinase erbB-4	Homo sapiens (Human)	SS
P21860	ERBB3	Receptor tyrosine-protein kinase erbB-3	Homo sapiens (Human)	SS
P00533	EGFR	Epidermal growth factor receptor	Homo sapiens (Human)	EV
P34925	RYK	Tyrosine-protein kinase RYK	Homo sapiens (Human)	PR
Q02763	TEK	Angiopoietin-1 receptor	Homo sapiens (Human)	SS
P35590	TIE1	Tyrosine-protein kinase receptor Tie-1	Homo sapiens (Human)	PR
P10721	KIT	Mast/stem cell growth factor receptor Kit	Homo sapiens (Human)	EV
P09619	PDGFRB	Platelet-derived growth factor receptor beta	Homo sapiens (Human)	EV
P07333	CSF1R	Macrophage colony-stimulating factor 1 receptor	Homo sapiens (Human)	SS
P16234	PDGFRA	Platelet-derived growth factor receptor alpha	Homo sapiens (Human)	EV
P36888	FLT3	Receptor-type tyrosine-protein kinase FLT3	Homo sapiens (Human)	EV
Q03142	Fgfr4	Fibroblast growth factor receptor 4	Mus musculus (Mouse)	PR
P05532	Kit	Mast/stem cell growth factor receptor Kit	Mus musculus (Mouse)	PR
Q91V87	Fgfrl1	Fibroblast growth factor receptor-like 1	Mus musculus (Mouse)	PR
P35917	Flt4	Vascular endothelial growth factor receptor 3	Mus musculus (Mouse)	SS
P05622	Pdgfrb	Platelet-derived growth factor receptor beta	Mus musculus (Mouse)	SS
P09581	Csf1r	Macrophage colony-stimulating factor 1 receptor	Mus musculus (Mouse)	SS
P35969	Flt1	Vascular endothelial growth factor receptor 1	Mus musculus (Mouse)	SS
P35546	Ret	Proto-oncogene tyrosine-protein kinase receptor Ret	Mus musculus (Mouse)	SS
Q06806	Tie1	Tyrosine-protein kinase receptor Tie-1	Mus musculus (Mouse)	SS
Q00342	Flt3	Receptor-type tyrosine-protein kinase FLT3	Mus musculus (Mouse)	SS
Q6J9G1	Styk1	Tyrosine-protein kinase STYK1	Mus musculus (Mouse)	PR
Q61851	Fgfr3	Fibroblast growth factor receptor 3	Mus musculus (Mouse)	PR
Q02858	Tek	Angiopoietin-1 receptor	Mus musculus (Mouse)	SS
P35918	Kdr	Vascular endothelial growth factor receptor 2	Mus musculus (Mouse)	PR
P21803	Fgfr2	Fibroblast growth factor receptor 2	Mus musculus (Mouse)	SS
P26618	Pdgfra	Platelet-derived growth factor receptor alpha	Mus musculus (Mouse)	SS
P16092	Fgfr1	Fibroblast growth factor receptor 1	Mus musculus (Mouse)	SS
Q2HWD6	KIT	Mast/stem cell growth factor receptor Kit	Sus scrofa (Pig)	SS
Q7TQM3	Fgfrl1	Fibroblast growth factor receptor-like 1	Rattus norvegicus (Rat)	PR
P53767	Flt1	Vascular endothelial growth factor receptor 1	Rattus norvegicus (Rat)	PR
P20786	Pdgfra	Platelet-derived growth factor receptor alpha	Rattus norvegicus (Rat)	SS
Q91ZT1	Flt4	Vascular endothelial growth factor receptor 3	Rattus norvegicus (Rat)	SS
G3V9H8	Ret	Proto-oncogene tyrosine-protein kinase receptor Ret	Rattus norvegicus (Rat)	SS
Q05030	Pdgfrb	Platelet-derived growth factor receptor beta	Rattus norvegicus (Rat)	SS
O08775	Kdr	Vascular endothelial growth factor receptor 2	Rattus norvegicus (Rat)	SS
Q498D6	Fgfr4	Fibroblast growth factor receptor 4	Rattus norvegicus (Rat)	PR
Q04589	Fgfr1	Fibroblast growth factor receptor 1	Rattus norvegicus (Rat)	SS
Q17833	old-1	Tyrosine-protein kinase receptor old-1	Caenorhabditis elegans	PR
Q19238	F09A5.2	Putative tyrosine-protein kinase F09A5.2	Caenorhabditis elegans	SS
P34892	kin-16	Receptor-like tyrosine-protein kinase kin-16	Caenorhabditis elegans	PR
G5ED65	ver-1	Protein ver-1	Caenorhabditis elegans	PR
Q10656	egl-15	Myoblast growth factor receptor egl-15	Caenorhabditis elegans	PR
Q3E8W4	ANX2	Receptor-like protein kinase ANXUR2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SCZ4	FER	Receptor-like protein kinase FERONIA	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FLW0	At5g24010	Probable receptor-like protein kinase At5g24010	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8AXB3	kdrl	Vascular endothelial growth factor receptor kdr-like	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q5GIT4	kdr	Vascular endothelial growth factor receptor 2	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
O73791	tek	Angiopoietin-1 receptor	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q8JG38	fgfr2	Fibroblast growth factor receptor 2	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q9I8N6	csf1r	Macrophage colony-stimulating factor 1 receptor	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q90413	fgfr4	Fibroblast growth factor receptor 4	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q9DE49	pdgfra	Platelet-derived growth factor receptor alpha	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q8JFR5	kita	Mast/stem cell growth factor receptor kita	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q5MD89	flt4	Vascular endothelial growth factor receptor 3	Danio rerio (Zebrafish) (Brachydanio rerio)	SS
Q90Z00	fgfr1a	Fibroblast growth factor receptor 1-A	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MWSWKCLLFW	AVLVTATLCT	ARPSPTLPEQ	AQPWGAPVEV	ESFLVHPGDL	LQLRCRLRDD
70	80	90	100	110	120
VQSINWLRDG	VQLAESNRTR	ITGEEVEVQD	SVPADSGLYA	CVTSSPSGSD	TTYFSVNVSD
130	140	150	160	170	180
ALPSSEDDDD	DDDSSSEEKE	TDNTKPNRMP	VAPYWTSPEK	MEKKLHAVPA	AKTVKFKCPS
190	200	210	220	230	240
SGTPNPTLRW	LKNGKEFKPD	HRIGGYKVRY	ATWSIIMDSV	VPSDKGNYTC	IVENEYGSIN
250	260	270	280	290	300
HTYQLDVVER	SPHRPILQAG	LPANKTVALG	SNVEFMCKVY	SDPQPHIQWL	KHIEVNGSKI
310	320	330	340	350	360
GPDNLPYVQI	LKTAGVNTTD	KEMEVLHLRN	VSFEDAGEYT	CLAGNSIGLS	HHSAWLTVLE
370	380	390	400	410	420
ALEERPAVMT	SPLYLEIIIY	CTGAFLISCM	VGSVIVYKMK	SGTKKSDFHS	QMAVHKLAKS
430	440	450	460	470	480
IPLRRQVTVS	ADSSASMNSG	VLLVRPSRLS	SSGTPMLAGV	SEYELPEDPR	WELPRDRLVL
490	500	510	520	530	540
GKPLGEGCFG	QVVLAEAIGL	DKDKPNRVTK	VAVKMLKSDA	TEKDLSDLIS	EMEMMKMIGK
550	560	570	580	590	600
HKNIINLLGA	CTQDGPLYVI	VEYASKGNLR	EYLQARRPPG	LEYCYNPSHN	PEEQLSSKDL
610	620	630	640	650	660
VSCAYQVARG	MEYLASKKCI	HRDLAARNVL	VTEDNVMKIA	DFGLARDIHH	IDYYKKTTNG
670	680	690	700	710	720
RLPVKWMAPE	ALFDRIYTHQ	SDVWSFGVLL	WEIFTLGGSP	YPGVPVEELF	KLLKEGHRMD
730	740	750	760	770	780
KPSNCTNELY	MMMRDCWHAV	PSQRPTFKQL	VEDLDRIVAL	TSNQEYLDLS	MPLDQYSPSF
790	800	810	820
PDTRSSTCSS	GEDSVFSHEP	LPEEPCLPRH	PAQLANGGLK	RR