P22455
SS
Gene name |
FGFR4 (JTK2, TKF) |
Protein name |
Fibroblast growth factor receptor 4 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2264 |
EC number |
2.7.10.1: Protein-tyrosine kinases |
Protein Class |
|
Descriptions
Fibroblast growth factor receptor 4 (FGFR4) 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. FGFR4 consists of the ligand-binding region (immunoglobulin (Ig) domain 1-like domains) designated D1, D2, and D3, and a kinase domain. In a study with human FGFR1 (P11362) and FGFR3 (P22607), 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 dispensible for autoinhibition but plays a minor role in autoinhibition.
Autoinhibitory domains (AIDs)
Target domain |
152-349 (D2-D3 domains) |
Relief mechanism |
Ligand binding |
Assay |
|
Target domain |
152-240 (D2 domain) |
Relief mechanism |
Others |
Assay |
|
Accessory elements
No accessory elements
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
- Griffith J et al. (2004) "The structural basis for autoinhibition of FLT3 by the juxtamembrane domain", Molecular cell, 13, 169-78
- Reindl C et al. (2006) "From kinases to cancer: leakiness, loss of autoinhibition and leukemia", Cell cycle (Georgetown, Tex.), 5, 599-602
- Jiang J et al. (2004) "Identifying and characterizing a novel activating mutation of the FLT3 tyrosine kinase in AML", Blood, 104, 1855-8
- Hubbard SR (2004) "Juxtamembrane autoinhibition in receptor tyrosine kinases", Nature reviews. Molecular cell biology, 5, 464-71
- Chiara F et al. (2004) "Autoinhibition of the platelet-derived growth factor beta-receptor tyrosine kinase by its C-terminal tail", The Journal of biological chemistry, 279, 19732-8
- Mol CD et al. (2004) "Structural basis for the autoinhibition and STI-571 inhibition of c-Kit tyrosine kinase", The Journal of biological chemistry, 279, 31655-63
- Zhang X et al. (2006) "An allosteric mechanism for activation of the kinase domain of epidermal growth factor receptor", Cell, 125, 1137-49
- Ferguson KM et al. (2003) "EGF activates its receptor by removing interactions that autoinhibit ectodomain dimerization", Molecular cell, 11, 507-17
- Whitson KB et al. (2005) "Functional effects of glycosylation at Asn-579 of the epidermal growth factor receptor", Biochemistry, 44, 14920-31
- Contessa JN et al. (2008) "Inhibition of N-linked glycosylation disrupts receptor tyrosine kinase signaling in tumor cells", Cancer research, 68, 3803-9
- Yokoyama N et al. (2005) "The C terminus of RON tyrosine kinase plays an autoinhibitory role", The Journal of biological chemistry, 280, 8893-900
- Huang X et al. (2009) "Structural insights into the inhibited states of the Mer receptor tyrosine kinase", Journal of structural biology, 165, 88-96
- 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
- Bossi RT et al. (2010) "Crystal structures of anaplastic lymphoma kinase in complex with ATP competitive inhibitors", Biochemistry, 49, 6813-25
- Donella-Deana A et al. (2005) "Unique substrate specificity of anaplastic lymphoma kinase (ALK): development of phosphoacceptor peptides for the assay of ALK activity", Biochemistry, 44, 8533-42
- Roskoski R Jr (2008) "VEGF receptor protein-tyrosine kinases: structure and regulation", Biochemical and biophysical research communications, 375, 287-91
- Wang X et al. (2020) "Molecular Bases of VEGFR-2-Mediated Physiological Function and Pathological Role", Frontiers in cell and developmental biology, 8, 599281
- Shewchuk LM et al. (2000) "Structure of the Tie2 RTK domain: self-inhibition by the nucleotide binding loop, activation loop, and C-terminal tail", Structure (London, England : 1993), 8, 1105-13
- Stuttfeld E et al. (2009) "Structure and function of VEGF receptors", IUBMB life, 61, 915-22
- Arevalo JC et al. (2000) "TrkA immunoglobulin-like ligand binding domains inhibit spontaneous activation of the receptor", Molecular and cellular biology, 20, 5908-16
- Artim SC et al. (2012) "Assessing the range of kinase autoinhibition mechanisms in the insulin receptor family", The Biochemical journal, 448, 213-20
- Shen J et al. (2019) "Extracellular Juxtamembrane Motif Critical for TrkB Preformed Dimer and Activation", Cells, 8,
- Sammon D et al. (2020) "Two-step release of kinase autoinhibition in discoidin domain receptor 1", Proceedings of the National Academy of Sciences of the United States of America, 117, 22051-22060
- Fu HL et al. (2014) "Glycosylation at Asn211 regulates the activation state of the discoidin domain receptor 1 (DDR1)", The Journal of biological chemistry, 289, 9275-87
- Knowles PP et al. (2006) "Structure and chemical inhibition of the RET tyrosine kinase domain", The Journal of biological chemistry, 281, 33577-87
Autoinhibited structure
Activated structure
45 structures for P22455
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4QQ5 | X-ray | 220 A | A | 445-753 | PDB |
| 4QQC | X-ray | 240 A | A | 445-753 | PDB |
| 4QQJ | X-ray | 168 A | A | 445-753 | PDB |
| 4QQT | X-ray | 150 A | A | 445-753 | PDB |
| 4QRC | X-ray | 190 A | A | 445-753 | PDB |
| 4R6V | X-ray | 235 A | A | 445-753 | PDB |
| 4TYE | X-ray | 280 A | A | 447-753 | PDB |
| 4TYG | X-ray | 240 A | A | 447-753 | PDB |
| 4TYI | X-ray | 340 A | A | 447-753 | PDB |
| 4TYJ | X-ray | 245 A | A | 447-753 | PDB |
| 4UXQ | X-ray | 185 A | A | 447-753 | PDB |
| 4XCU | X-ray | 171 A | A | 449-751 | PDB |
| 5JKG | X-ray | 235 A | A | 445-753 | PDB |
| 5NUD | X-ray | 250 A | A/B | 449-753 | PDB |
| 5NWZ | X-ray | 237 A | A/B | 449-753 | PDB |
| 5XFF | X-ray | 270 A | A | 445-753 | PDB |
| 5XFJ | X-ray | 325 A | A | 445-753 | PDB |
| 6IUO | X-ray | 230 A | A | 445-753 | PDB |
| 6IUP | X-ray | 200 A | A | 445-753 | PDB |
| 6J6Y | X-ray | 215 A | A/D | 141-244 | PDB |
| 6JPE | X-ray | 160 A | A | 445-753 | PDB |
| 6JPJ | X-ray | 264 A | A | 445-753 | PDB |
| 6NVG | X-ray | 199 A | A | 450-751 | PDB |
| 6NVH | X-ray | 190 A | A | 450-751 | PDB |
| 6NVI | X-ray | 212 A | A | 450-751 | PDB |
| 6NVJ | X-ray | 230 A | A | 450-751 | PDB |
| 6NVK | X-ray | 230 A | A | 450-751 | PDB |
| 6V9C | X-ray | 190 A | A | 449-751 | PDB |
| 6YI8 | X-ray | 213 A | A/B | 447-753 | PDB |
| 7DTZ | X-ray | 201 A | A | 445-753 | PDB |
| 7F3M | X-ray | 229 A | A | 445-753 | PDB |
| 7N1J | X-ray | 299 A | A/C | 245-355 | PDB |
| 7TYD | X-ray | 286 A | A/C | 245-355 | PDB |
| 7V29 | X-ray | 198 A | A/B | 445-753 | PDB |
| 7VJL | X-ray | 290 A | A/B | 453-753 | PDB |
| 7WCT | X-ray | 211 A | A | 445-753 | PDB |
| 7WCW | X-ray | 232 A | A | 445-753 | PDB |
| 7WCX | X-ray | 217 A | A | 445-753 | PDB |
| 7YBO | X-ray | 231 A | A | 445-753 | PDB |
| 7YBP | X-ray | 224 A | A | 445-753 | PDB |
| 7YBX | X-ray | 223 A | A | 445-753 | PDB |
| 7YC1 | X-ray | 254 A | A | 445-753 | PDB |
| 7YC3 | X-ray | 199 A | A | 445-753 | PDB |
| 7YSW | EM | 303 A | C/E | 142-354 | PDB |
| AF-P22455-F1 | Predicted | AlphaFoldDB |
683 variants for P22455
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1057520036 RCV000433453 CA16603145 |
367 | Y>C | Breast neoplasm [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001196704 RCV001777142 VAR_014797 rs351855 RCV000017723 CA126374 |
388 | G>R | Cancer progression and tumor cell motility cancer cells, may be associated with accelerated disease progression and increased tumor cell motility, possibly due to increased stability of the protease MMP14; leads to phosphorylation at residue Y-390, resulting in prolonged FGFR4 activity; increases interaction with STAT3, resulting in STAT3 phosphorylation and signaling activation. [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA16602606 rs1057519792 RCV000435933 |
535 | N>K | Rhabdomyosarcoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000419077 rs1057519792 CA16602607 |
535 | N>K | Rhabdomyosarcoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16602608 RCV000429407 rs1057519793 |
550 | V>E | Rhabdomyosarcoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs141355998 CA3575781 |
2 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362284476 rs545721160 |
2 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1169827041 CA362284525 |
6 | A>T | No |
ClinGen gnomAD |
|
|
rs745509807 CA3575783 |
7 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA362284580 rs1352897988 |
9 | G>R | No |
ClinGen TOPMed |
|
|
rs1966265 CA362284594 |
10 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362284599 rs1400416973 |
10 | V>G | No |
ClinGen gnomAD |
|
|
CA3575785 VAR_029185 rs1966265 |
10 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA362284595 rs1966265 |
10 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362284615 rs1379659427 |
12 | L>P | No |
ClinGen TOPMed |
|
|
rs746965870 CA3575786 |
13 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3575787 rs768529489 |
14 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs747930223 CA3575789 |
15 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3575788 rs776518605 |
15 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3575790 rs200148492 |
17 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759833131 CA132826475 |
24 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3575792 COSM3365999 rs759833131 |
24 | A>V | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA132826480 rs968495498 |
25 | S>T | No |
ClinGen TOPMed |
|
|
rs979979470 CA132826481 |
28 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs979979470 CA362284779 |
28 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1400592724 CA362285549 |
31 | E>D | No |
ClinGen gnomAD |
|
|
rs762859761 CA3575908 |
32 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs766080164 CA3575909 |
34 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA132826992 rs922358662 |
34 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1217937501 CA362285682 |
39 | E>K | No |
ClinGen gnomAD |
|
|
CA362285686 rs1217937501 |
39 | E>Q | No |
ClinGen gnomAD |
|
|
CA3575915 rs528745108 |
42 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1484903613 CA362285778 |
44 | E>V | No |
ClinGen gnomAD |
|
|
CA3575916 rs746357877 |
46 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201142834 CA3575917 |
48 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA362285820 rs987602724 |
49 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs987602724 CA132827034 |
49 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3575918 rs780226734 |
49 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1161701931 CA362285842 |
51 | Q>R | No |
ClinGen gnomAD |
|
|
CA362285855 rs1429405481 |
52 | P>L | No |
ClinGen gnomAD |
|
|
rs916468815 CA132827042 |
53 | V>E | No |
ClinGen gnomAD |
|
|
CA132827043 rs572098218 |
54 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs776394759 CA3575921 |
54 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs572098218 CA3575920 |
54 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs150191035 CA3575924 |
56 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762728948 CA3575925 |
56 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA362285917 rs1315733816 |
58 | G>W | No |
ClinGen gnomAD |
|
|
rs751304047 CA362285924 |
59 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751304047 CA3575927 |
59 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1754192 rs200344385 CA3575926 |
59 | R>W | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1335869962 CA362285938 |
61 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs138727638 CA3575928 |
61 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3575929 rs764339427 |
62 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3575930 rs754036845 |
62 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405684962 CA362285946 |
63 | G>D | No |
ClinGen gnomAD |
|
|
CA362285943 rs1582008061 |
63 | G>S | No |
ClinGen Ensembl |
|
|
rs1164824802 CA362285952 |
64 | G>D | No |
ClinGen gnomAD |
|
|
CA362285973 rs1582008077 |
67 | Y>D | No |
ClinGen Ensembl |
|
|
rs1395976978 CA362285986 |
68 | K>E | No |
ClinGen gnomAD |
|
|
rs1459430948 CA362286023 |
71 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs749656526 CA3575933 |
72 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362286042 rs373397427 |
72 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3575934 rs373397427 |
72 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747421596 CA3575936 |
74 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA3575937 rs202216794 |
75 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA362286079 rs1361852497 |
76 | A>P | No |
ClinGen TOPMed |
|
|
CA362286083 rs1336979458 |
76 | A>V | No |
ClinGen gnomAD |
|
|
rs781045610 CA3575938 |
77 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA3575939 rs200146267 |
78 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370929571 CA3575942 |
80 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM94321 CA3575941 rs772536234 |
80 | R>W | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs770732286 CA362286156 |
84 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA362286152 rs1469464221 |
84 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs770732286 CA3575943 |
84 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA3575944 rs569265847 |
85 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3575945 rs149419025 |
85 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149419025 CA362286167 |
85 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776843338 CA3575947 |
86 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1331257393 CA362286184 |
87 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs765382163 CA3575949 |
89 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1357986060 CA362286255 |
93 | P>L | No |
ClinGen gnomAD |
|
|
rs1292799769 CA362286283 |
96 | A>T | No |
ClinGen gnomAD |
|
|
CA3575951 rs758477132 |
98 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767045353 CA3575952 |
98 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755455944 CA3575954 |
104 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA362286372 rs1210567917 |
104 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1210567917 CA362286369 |
104 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA362286409 rs1259527753 |
108 | I>L | No |
ClinGen gnomAD |
|
|
rs548911521 CA3575956 |
109 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201049126 CA3575958 |
111 | Q>* | No |
ClinGen 1000Genomes ExAC |
|
|
CA3575960 rs770452429 |
114 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA132827250 rs1016993541 |
115 | L>F | No |
ClinGen TOPMed |
|
|
rs1409743498 CA362286491 |
117 | T>A | No |
ClinGen gnomAD |
|
|
rs144853017 CA3575961 |
117 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3575962 rs745738782 |
118 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1046287376 CA132827365 |
119 | D>E | No |
ClinGen Ensembl |
|
|
rs1305938137 CA362286544 |
123 | S>F | No |
ClinGen gnomAD |
|
|
rs1582008685 CA362286557 |
125 | N>S | No |
ClinGen Ensembl |
|
|
rs1352821278 CA362286564 |
126 | D>G | No |
ClinGen gnomAD |
|
|
rs370322847 CA3575980 |
126 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142240686 CA3575981 |
127 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142240686 CA3575982 |
127 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142240686 CA362286568 |
127 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA132827382 rs987590875 |
128 | E>A | No |
ClinGen TOPMed |
|
|
CA362286593 rs1468561476 |
130 | P>L | No |
ClinGen gnomAD |
|
|
CA3575983 rs779938731 |
130 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs746832173 CA3575984 |
131 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3575986 COSM3661727 rs773378049 |
134 | R>G | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA362286631 rs1370781803 |
134 | R>K | No |
ClinGen TOPMed |
|
|
rs1193471254 CA362286638 |
134 | R>S | No |
ClinGen gnomAD |
|
|
CA362286648 rs1364869339 |
135 | D>G | No |
ClinGen gnomAD |
|
|
rs376618 CA362286660 |
136 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3575987 rs376618 VAR_042211 |
136 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs376618 CA362286662 |
136 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362286655 rs1156866637 |
136 | P>T | No |
ClinGen gnomAD |
|
|
CA3575989 rs199792541 |
137 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs560823913 CA3575988 |
137 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1439890207 COSM1207094 CA362286689 |
139 | R>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs753223974 CA3575992 |
140 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362286748 rs1236743193 |
143 | P>L | No |
ClinGen gnomAD |
|
|
CA132827416 rs74633199 |
144 | Q>K | No |
ClinGen Ensembl |
|
|
CA3575993 rs761002255 |
144 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1582008921 CA362286764 |
145 | Q>E | No |
ClinGen Ensembl |
|
|
CA362286773 rs1315861066 |
146 | A>T | No |
ClinGen gnomAD |
|
|
rs899749434 CA132827611 |
147 | P>T | No |
ClinGen TOPMed |
|
|
rs996490269 CA132827618 |
150 | T>R | No |
ClinGen TOPMed |
|
|
rs1562067525 CA362286851 |
151 | H>P | No |
ClinGen Ensembl |
|
|
rs1562067525 CA362286849 |
151 | H>R | No |
ClinGen Ensembl |
|
|
rs777012486 CA3576022 |
153 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA362286869 rs1255439106 |
154 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs201257476 CA3576023 COSM1179976 |
154 | R>H | large_intestine prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs201257476 CA132827645 |
154 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1479038036 CA362286880 |
156 | E>K | No |
ClinGen gnomAD |
|
|
CA3576024 rs764916049 |
158 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA362286904 rs1375002735 |
159 | L>V | No |
ClinGen gnomAD |
|
|
CA362286910 rs1475550249 |
160 | H>D | No |
ClinGen TOPMed |
|
|
CA362286912 rs1460269724 |
160 | H>R | No |
ClinGen gnomAD |
|
|
rs1416589788 CA362286934 |
164 | A>T | No |
ClinGen gnomAD |
|
|
rs765844308 CA3576027 |
164 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1263120442 CA362286942 |
165 | G>E | No |
ClinGen TOPMed |
|
|
rs142584511 CA362286950 |
166 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA132827656 rs1022951577 |
166 | N>S | No |
ClinGen Ensembl |
|
|
CA3576030 rs150920445 |
168 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3576032 rs139464025 |
171 | R>C | No |
ClinGen ESP ExAC TOPMed |
|
|
CA362286981 rs1326935512 |
171 | R>H | No |
ClinGen TOPMed |
|
|
rs758770208 CA3576033 |
172 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362286991 rs1213584611 |
173 | P>T | No |
ClinGen gnomAD |
|
|
rs775590700 CA3576036 |
175 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187249252 CA362287021 |
177 | N>K | No |
ClinGen gnomAD |
|
|
CA362287017 rs1582009349 |
177 | N>T | No |
ClinGen Ensembl |
|
|
VAR_042212 rs55675160 CA3576037 |
179 | T>A | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA3576038 rs111435837 |
179 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362287043 rs1436383950 |
181 | T>I | No |
ClinGen gnomAD |
|
|
rs1582009389 CA362287038 |
181 | T>P | No |
ClinGen Ensembl |
|
|
CA3576040 rs566495475 |
183 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149737957 CA3576042 |
183 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs566495475 CA3576041 |
183 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362287061 rs1290179665 |
184 | W>* | No |
ClinGen gnomAD |
|
|
CA132827736 rs920435389 |
188 | G>A | No |
ClinGen Ensembl |
|
|
rs751043027 CA3576046 |
190 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362287100 rs751043027 |
190 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576044 rs546558669 |
190 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751043027 CA3576045 |
190 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220305936 CA362287113 |
192 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs752670660 CA3576048 |
195 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576047 rs767542365 |
195 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777645394 CA3576050 |
196 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576051 rs746114840 |
197 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208296121 CA362287159 |
199 | G>D | No |
ClinGen gnomAD |
|
|
rs1484953475 CA362287154 |
199 | G>S | No |
ClinGen gnomAD |
|
|
rs146400837 CA3576052 |
200 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs147846257 CA3576053 |
201 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA132827799 rs866476239 |
201 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA3576078 rs770565518 |
203 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA3576077 rs770565518 |
203 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA362287249 rs1349255606 |
204 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA362287260 rs1487657736 |
204 | H>R | No |
ClinGen TOPMed |
|
|
CA362287254 rs1349255606 |
204 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1294037897 CA362287333 |
207 | W>* | No |
ClinGen gnomAD |
|
|
rs759044201 CA3576080 |
208 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs971646755 CA132828218 |
209 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA362287374 rs1289445624 |
210 | V>M | No |
ClinGen gnomAD |
|
|
rs141468552 CA3576081 |
211 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775100440 CA3576082 |
214 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362287480 rs1482714188 |
215 | V>L | No |
ClinGen gnomAD |
|
|
rs760145859 CA132828235 |
216 | P>L | No |
ClinGen gnomAD |
|
|
rs962807397 CA132828241 |
217 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs753812223 CA3576085 |
219 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200232395 CA3576086 |
219 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362287563 rs1369223288 |
220 | G>C | No |
ClinGen gnomAD |
|
|
CA362287559 rs1369223288 |
220 | G>S | No |
ClinGen gnomAD |
|
|
CA362287575 rs1409793754 |
221 | T>A | No |
ClinGen gnomAD |
|
|
rs1582010423 CA362287621 |
223 | T>P | No |
ClinGen Ensembl |
|
|
rs1562068789 CA362287639 |
224 | C>S | No |
ClinGen Ensembl |
|
|
rs1314057724 CA362287673 |
226 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1314057724 CA362287678 |
226 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3576087 rs764871795 |
227 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1357379967 CA362287688 |
227 | E>K | No |
ClinGen gnomAD |
|
|
rs1283810103 CA362287725 |
228 | N>S | No |
ClinGen gnomAD |
|
|
CA3576089 rs755103491 |
229 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781285001 CA3576090 |
229 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3576091 rs752817668 |
234 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199935139 CA3576092 |
234 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376741183 CA362287845 |
235 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs749756260 CA132828318 |
235 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs749756260 CA3576094 |
235 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1242325272 CA362287861 |
236 | N>K | No |
ClinGen gnomAD |
|
|
CA362287886 rs771333444 |
238 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs745557685 CA3576097 |
240 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA362287935 rs1177796497 |
242 | L>Q | No |
ClinGen TOPMed |
|
|
CA362287937 rs1177796497 |
242 | L>R | No |
ClinGen TOPMed |
|
|
rs1328215427 CA362288931 |
243 | E>D | No |
ClinGen gnomAD |
|
|
CA3576098 rs771891900 |
243 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs777010660 CA3576130 |
244 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576131 rs765722108 |
246 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA362288950 rs1582011490 |
247 | H>P | No |
ClinGen Ensembl |
|
|
CA3576133 COSM4141700 rs758837002 |
248 | R>Q | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA132828701 rs969674953 |
248 | R>W | No |
ClinGen TOPMed |
|
|
rs1407426758 CA362288980 |
252 | Q>R | No |
ClinGen gnomAD |
|
|
rs780505846 CA3576134 |
253 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1263326550 CA362288991 |
254 | G>E | No |
ClinGen gnomAD |
|
|
CA3576136 rs754633250 |
254 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330127975 CA362288996 |
255 | L>F | No |
ClinGen TOPMed |
|
|
rs938855503 CA132828719 |
256 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs769335792 CA3576139 |
261 | A>V | No |
ClinGen ExAC |
|
|
CA3576141 COSM1436238 rs148292303 |
262 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA132828770 rs748100430 |
264 | G>D | No |
ClinGen Ensembl |
|
|
rs1251126224 CA362289047 |
264 | G>S | No |
ClinGen gnomAD |
|
|
CA3576143 rs550870047 |
266 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3576145 rs201913502 |
267 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1427697017 CA362289087 |
270 | L>Q | No |
ClinGen gnomAD |
|
|
CA3576147 rs761864523 |
272 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1582011719 CA362289110 |
273 | V>G | No |
ClinGen Ensembl |
|
|
CA362289105 rs1416092582 |
273 | V>M | No |
ClinGen gnomAD |
|
|
rs11954456 CA132828793 |
275 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576149 rs750977138 |
276 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs763502227 CA3576150 |
281 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA362289165 rs1344801968 |
281 | I>S | No |
ClinGen gnomAD |
|
|
rs1274572372 CA362289184 |
284 | L>M | No |
ClinGen gnomAD |
|
|
rs1486003839 CA362289201 |
286 | H>L | No |
ClinGen gnomAD |
|
|
CA132828794 rs368514843 |
287 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3576152 rs752008617 |
288 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216312811 CA362289217 |
289 | I>V | No |
ClinGen TOPMed |
|
|
CA3576153 rs755351877 |
290 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576155 rs752392002 |
291 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749248588 CA3576158 |
295 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770815575 CA3576159 |
296 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs770815575 CA362289297 |
296 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs372605354 CA3576161 |
297 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA132828836 rs1057633 |
297 | D>V | No |
ClinGen Ensembl |
|
|
rs776720644 CA3576163 |
298 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA362289318 rs1363928712 |
298 | G>V | No |
ClinGen TOPMed |
|
|
CA3576165 rs769782807 |
301 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA362289345 rs1212288041 |
301 | Y>N | No |
ClinGen gnomAD |
|
|
CA362289357 rs1349931289 |
302 | V>M | No |
ClinGen TOPMed |
|
|
CA362289374 rs1163504632 |
303 | Q>P | No |
ClinGen TOPMed |
|
|
CA3576166 rs773383674 |
304 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200525902 CA3576180 |
307 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200525902 CA132828930 |
307 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs973386531 CA132828955 |
308 | A>T | No |
ClinGen Ensembl |
|
|
rs779846040 CA3576181 |
309 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1456338648 CA362289520 |
312 | S>G | No |
ClinGen gnomAD |
|
|
CA132828965 rs958175052 |
314 | E>K | No |
ClinGen TOPMed |
|
|
rs1272925107 CA362289569 |
315 | V>M | No |
ClinGen TOPMed |
|
|
rs770090847 CA3576183 |
316 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3576184 rs773542945 |
317 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs202234648 CA3576186 |
321 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362289656 rs1410493748 |
321 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs767796482 CA3576190 |
323 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576189 rs767796482 |
323 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576193 rs753484340 |
326 | E>D | No |
ClinGen ExAC gnomAD |
|
|
COSM449371 CA3576192 rs143108014 |
326 | E>K | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA3576195 rs150737523 |
328 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362289784 rs1471984188 |
329 | G>D | No |
ClinGen gnomAD |
|
|
CA362289792 rs1415597851 |
330 | E>K | No |
ClinGen gnomAD |
|
|
CA3576196 rs556424873 |
332 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA132829037 rs961826139 |
332 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3576198 rs779822006 |
333 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA362289887 rs1348650129 |
335 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1285003792 CA362289961 |
339 | I>F | No |
ClinGen gnomAD |
|
|
rs1381695911 CA362289982 |
339 | I>T | No |
ClinGen gnomAD |
|
|
rs1472541408 CA362289997 |
340 | G>S | No |
ClinGen TOPMed |
|
|
CA3576202 rs749456342 |
343 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA3576203 rs373341851 COSM4141702 |
346 | A>P | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs373341851 CA362290133 |
346 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373341851 CA362290130 |
346 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3576204 rs774524474 |
349 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA362290249 rs1189648523 |
352 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA132829332 rs866930561 |
354 | E>K | No |
ClinGen Ensembl |
|
|
CA3576261 rs377545768 |
356 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362290521 rs1391141415 |
357 | T>A | No |
ClinGen TOPMed |
|
|
rs1168418391 CA362290556 |
358 | W>* | No |
ClinGen TOPMed |
|
|
CA362290577 rs1397366326 |
359 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA362290572 rs1397366326 |
359 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs766591955 CA3576264 |
360 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs373767917 CA3576265 |
360 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs911440999 CA132829337 COSM1207096 |
362 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA362290675 rs1345003568 |
363 | P>L | No |
ClinGen gnomAD |
|
|
CA132829355 rs371107833 |
364 | E>G | No |
ClinGen ESP |
|
|
CA3576269 rs533751635 |
364 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362290712 rs1320464950 |
365 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1320464950 CA362290709 |
365 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1202322132 CA362290716 |
365 | A>V | No |
ClinGen gnomAD |
|
|
rs777953609 CA362290763 |
366 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576271 rs564590358 |
368 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770529969 CA3576272 |
368 | T>M | No |
ClinGen ExAC |
|
|
rs564590358 CA132829359 |
368 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362290836 rs1234003025 |
369 | D>H | No |
ClinGen TOPMed |
|
|
CA362290861 rs1447537448 |
370 | I>F | No |
ClinGen gnomAD |
|
|
rs375477942 CA3576275 |
371 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368558499 CA3576277 |
374 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3576278 rs763979974 |
374 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766563138 CA3576281 |
375 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1582013293 CA362291099 |
377 | S>F | No |
ClinGen Ensembl |
|
|
CA362291257 rs1323140844 |
383 | L>P | No |
ClinGen gnomAD |
|
|
rs1375396470 CA362291413 |
387 | A>S | No |
ClinGen TOPMed |
|
|
rs1250996076 CA362291465 |
389 | L>P | No |
ClinGen TOPMed |
|
|
rs1250996076 CA362291455 |
389 | L>Q | No |
ClinGen TOPMed |
|
|
rs373745683 CA362291531 |
391 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373745683 CA3576291 |
391 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3576292 rs375466821 |
391 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362291609 rs1455524212 |
393 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs746496176 CA362291637 |
394 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA132829443 rs897462348 |
394 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs746496176 CA3576293 |
394 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362291726 rs1299232402 |
396 | H>P | No |
ClinGen gnomAD |
|
|
CA132829452 rs764942612 |
396 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761576473 CA3576296 |
396 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1270255483 CA362291775 |
397 | G>D | No |
ClinGen gnomAD |
|
|
rs570388674 CA3576298 |
397 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1562071377 CA362291783 |
398 | R>Q | No |
ClinGen Ensembl |
|
|
CA3576299 rs759709290 |
398 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA132829465 rs879104864 |
399 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
rs767618924 CA3576300 |
399 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3576302 rs752763302 |
401 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760787865 CA3576303 |
401 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760787865 CA132829489 |
401 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764568046 CA3576304 |
402 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA132829497 rs369630295 |
403 | P>S | No |
ClinGen Ensembl |
|
|
CA362291928 rs1158884899 |
404 | A>D | No |
ClinGen gnomAD |
|
|
CA3576307 rs779369671 |
404 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576308 rs750129867 |
405 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758164892 CA3576309 |
406 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA362292051 rs1562071491 |
409 | L>P | No |
ClinGen Ensembl |
|
|
rs1441997844 CA362292062 |
410 | S>F | No |
ClinGen TOPMed |
|
|
CA3576312 rs367788201 |
411 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3576313 rs371352765 |
411 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3576314 rs371352765 |
411 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs965587225 CA362292135 |
413 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs748057716 CA3576315 |
413 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA132829550 rs965587225 |
413 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs769601840 CA3576316 |
415 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769601840 CA3576317 |
415 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576318 rs762709356 |
416 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs200070761 CA3576319 |
416 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362292718 rs1342829829 |
419 | S>F | No |
ClinGen gnomAD |
|
|
CA362292751 rs777668601 |
421 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777668601 CA3576335 |
421 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362292782 rs1436734443 |
422 | S>L | No |
ClinGen gnomAD |
|
|
rs1210299931 CA362292834 |
424 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3576336 rs749144190 |
425 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1238910969 CA362292845 |
425 | S>P | No |
ClinGen gnomAD |
|
|
rs55879131 CA3576339 |
426 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3576340 rs553963815 |
426 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3576338 rs55879131 VAR_046102 |
426 | G>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3576341 rs75935301 |
429 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362292959 rs1409463065 |
430 | S>* | No |
ClinGen gnomAD |
|
|
rs149790098 CA362292955 |
430 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362292961 rs1409463065 |
430 | S>L | No |
ClinGen gnomAD |
|
|
CA3576342 rs149790098 |
430 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3576343 rs765902714 |
431 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA362293044 rs145751771 |
434 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145751771 CA3576345 |
434 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766706277 CA3576346 |
434 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs766706277 COSM737616 CA362293048 |
434 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1365703008 CA362293068 |
435 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs754621505 CA362293083 |
436 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576348 rs754621505 |
436 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs558220864 CA3576349 |
437 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3576350 rs61737768 |
437 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs558220864 CA362293101 |
437 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362293129 rs1280259487 |
438 | L>P | No |
ClinGen gnomAD |
|
|
CA3576352 rs777754416 |
441 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576353 rs749158608 |
442 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1465632616 CA362293229 |
442 | G>V | No |
ClinGen gnomAD |
|
|
CA362293240 rs757058931 |
443 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs757058931 CA3576354 |
443 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3576356 rs745616710 |
444 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA3576355 rs778723081 |
444 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576358 rs562021119 |
447 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3576360 rs145635664 |
448 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1458672862 CA362293321 |
448 | G>V | No |
ClinGen gnomAD |
|
|
rs763502037 CA3576362 |
449 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA362293350 rs138256705 |
450 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138256705 CA3576364 |
450 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362293420 rs775920309 |
453 | D>E | No |
ClinGen gnomAD |
|
|
CA132829791 rs888852136 |
453 | D>H | No |
ClinGen TOPMed |
|
|
rs752347179 CA362293456 |
455 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752347179 CA3576367 |
455 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763461529 CA3576371 |
457 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576372 rs763461529 |
457 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758122858 CA3576374 |
461 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA362293612 rs1479506840 |
461 | E>A | No |
ClinGen gnomAD |
|
|
CA3576375 rs552027908 |
462 | F>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs552027908 CA132829857 |
462 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3576376 rs748318813 |
462 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA132829869 rs200079763 |
463 | P>S | No |
ClinGen Ensembl |
|
|
rs752246420 CA362293695 |
464 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752246420 CA3576378 |
464 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576379 rs752246420 |
464 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576377 rs770012793 |
464 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1197422241 CA362293713 |
465 | D>G | No |
ClinGen gnomAD |
|
|
CA3576380 rs374011645 COSM98904 |
465 | D>N | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA3576381 rs374011645 |
465 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3576382 rs760016511 |
466 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362293870 rs1465469681 |
467 | L>V | No |
ClinGen Ensembl |
|
|
rs753942015 CA3576415 |
468 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs753942015 CA362293889 |
468 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA362293975 rs1166961756 |
472 | P>T | No |
ClinGen gnomAD |
|
|
rs1582014578 CA362293993 |
473 | L>P | No |
ClinGen Ensembl |
|
|
CA132830008 rs1039989029 |
475 | E>K | No |
ClinGen Ensembl |
|
|
CA362294095 rs1450783670 |
477 | C>W | No |
ClinGen TOPMed |
|
|
rs1259957089 CA362294155 |
480 | Q>H | No |
ClinGen gnomAD |
|
|
CA362294169 rs1582014637 |
481 | V>G | No |
ClinGen Ensembl |
|
|
rs747438040 CA3576421 |
482 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs555818397 CA3576420 |
482 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs574060950 CA3576422 |
483 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141384037 CA3576423 |
483 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs542179243 CA3576424 |
486 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA362294335 rs1250936835 |
489 | M>L | No |
ClinGen gnomAD |
|
|
rs1582014709 CA362294381 |
490 | D>A | No |
ClinGen Ensembl |
|
|
rs370317404 CA132830037 |
491 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370317404 CA3576425 |
491 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362294406 rs370317404 |
491 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA132830043 rs1030279061 |
492 | A>P | No |
ClinGen Ensembl |
|
|
rs145163805 CA3576427 |
493 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA132830063 rs750637669 COSM1311000 |
493 | R>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs145163805 CA3576426 |
493 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1242974821 CA362294464 |
494 | P>S | No |
ClinGen TOPMed |
|
|
rs1582014803 CA362294489 |
495 | D>A | No |
ClinGen Ensembl |
|
|
CA3576429 rs774428041 |
495 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA362294611 rs1377721633 |
501 | A>T | No |
ClinGen gnomAD |
|
|
CA3576433 rs141530067 |
502 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA362294698 rs1404289962 |
504 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA362294697 rs1404289962 |
504 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA362294751 rs1469660786 |
507 | D>N | No |
ClinGen gnomAD |
|
|
rs1178604851 CA362296364 |
509 | A>T | No |
ClinGen gnomAD |
|
|
rs760387699 CA3576467 |
512 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA362296427 rs1159015556 |
513 | D>N | No |
ClinGen gnomAD |
|
|
CA3576469 rs773440554 |
514 | L>P | No |
ClinGen ExAC gnomAD |
|
|
VAR_042213 CA3576471 rs34158682 |
516 | D>N | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA362296483 rs34158682 |
516 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3576472 rs751686488 |
518 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA362296534 rs1562074301 |
519 | S>L | No |
ClinGen Ensembl |
|
|
rs1270131789 CA362296577 |
521 | M>I | No |
ClinGen TOPMed |
|
|
CA362296603 rs1582017265 |
523 | V>G | No |
ClinGen Ensembl |
|
|
CA362296633 rs1221258347 |
526 | L>V | No |
ClinGen TOPMed |
|
|
rs1361563193 CA362296651 |
528 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs756449612 CA3576476 |
529 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756449612 CA362296659 |
529 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs34284947 VAR_049720 CA3576477 |
529 | R>Q | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA3576478 rs753580027 |
530 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA132832848 rs867873834 |
530 | H>R | No |
ClinGen Ensembl |
|
|
rs1230890826 CA362296680 |
531 | K>E | No |
ClinGen gnomAD |
|
|
CA362296725 rs1479846640 |
534 | I>N | No |
ClinGen gnomAD |
|
|
CA362296800 rs1435959743 |
539 | V>A | No |
ClinGen TOPMed |
|
|
rs1446930826 CA362296814 |
540 | C>S | No |
ClinGen gnomAD |
|
|
CA362296824 rs1582017419 |
541 | T>P | No |
ClinGen Ensembl |
|
|
CA362296839 rs1172571979 |
542 | Q>E | No |
ClinGen TOPMed |
|
|
CA362296859 rs1384623155 |
543 | E>K | No |
ClinGen gnomAD |
|
|
rs746470231 CA3576501 |
544 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA3576481 rs745431924 |
544 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA362296959 rs1432835720 |
545 | P>A | No |
ClinGen gnomAD |
|
|
CA362296999 rs781092287 |
547 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576503 rs781092287 |
547 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576505 rs199694646 |
548 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576504 COSM221393 rs199694646 |
548 | V>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3576506 VAR_046103 rs774571806 |
550 | V>M | breast pleomorphic lobular sample; somatic mutation [UniProt] | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
rs1471204215 CA362297027 |
551 | E>* | No |
ClinGen TOPMed |
|
|
CA3576507 rs746053925 |
552 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs560997896 CA3576509 |
552 | C>Y | No |
ClinGen 1000Genomes ExAC |
|
|
rs201831200 CA3576511 |
553 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA132833067 rs865779136 |
553 | A>V | No |
ClinGen Ensembl |
|
|
rs777277309 CA3576513 |
554 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA132833083 rs538562844 |
555 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3576514 rs538562844 |
555 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA362297090 rs1175387404 |
556 | G>R | No |
ClinGen gnomAD |
|
|
rs765645716 CA3576515 |
557 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3576517 rs758106660 COSM1436246 |
559 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1177424162 CA362297144 |
561 | F>L | No |
ClinGen TOPMed |
|
|
CA3576519 rs139461102 |
563 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3576518 rs765924274 |
563 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200766146 CA3576521 |
565 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576520 rs754440305 |
565 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA3576522 rs748021462 |
566 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA3576523 rs755927074 |
567 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777504836 CA3576524 |
568 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA3576525 rs550511792 |
568 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374918004 CA362297207 |
571 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs374918004 CA362297206 |
571 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs768792805 CA3576529 |
571 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576530 rs777297736 |
571 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs569707811 CA3576533 |
573 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs569707811 CA362297217 |
573 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA3576534 rs773674820 |
574 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA132833253 rs759061465 |
575 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766121173 CA3576536 |
575 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576537 rs751104622 |
575 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576540 rs752662293 |
576 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766967102 CA3576539 |
576 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756085498 CA362297241 |
578 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576542 rs777552586 |
578 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756085498 CA3576541 |
578 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753728626 CA3576544 |
579 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA132833278 rs984035214 |
580 | S>N | No |
ClinGen TOPMed |
|
|
CA3576546 rs747147091 |
582 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs138800021 CA3576547 |
583 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1251599959 CA362297278 |
584 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs377345475 CA3576549 |
585 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs555513735 CA3576550 |
587 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs555513735 CA362297296 |
587 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362297302 rs1383607281 |
588 | V>F | No |
ClinGen TOPMed |
|
|
CA362297311 rs1165395205 |
590 | V>I | No |
ClinGen gnomAD |
|
|
CA3576552 rs34138361 RCV000884560 |
591 | S>F | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA362297334 rs1407886887 |
593 | A>G | No |
ClinGen gnomAD |
|
|
CA362297330 rs1398248017 |
593 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs774076725 CA3576554 |
594 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA362297351 rs1453935269 |
596 | V>M | No |
ClinGen gnomAD |
|
|
CA3576555 rs759151316 |
597 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs370892831 CA132833346 |
597 | A>V | No |
ClinGen TOPMed |
|
|
rs767126447 CA3576556 |
598 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs767126447 CA362297361 |
598 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs369266328 CA3576557 |
598 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3576559 rs764162870 |
599 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs373891653 CA132833361 |
600 | M>I | No |
ClinGen ESP |
|
|
CA132833356 rs899339318 |
600 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3576560 rs147223705 |
601 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362297396 rs1367319891 |
604 | E>K | No |
ClinGen TOPMed |
|
|
rs1241270509 CA362297409 |
605 | S>F | No |
ClinGen gnomAD |
|
|
rs757092386 CA3576561 |
606 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs994965005 CA132833367 |
606 | R>W | No |
ClinGen gnomAD |
|
|
CA362297441 rs1562075890 |
609 | I>V | No |
ClinGen Ensembl |
|
|
CA362297456 COSM1066178 rs1387211815 |
611 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA132833635 rs969219254 |
611 | R>W | No |
ClinGen Ensembl |
|
|
rs2301344 CA362297487 |
616 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs2301344 CA3576581 |
616 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA132833678 rs754529388 |
623 | D>N | No |
ClinGen gnomAD |
|
|
rs927696160 CA132833686 |
623 | D>V | No |
ClinGen Ensembl |
|
|
CA3576584 rs756238859 |
624 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs548982883 CA3576586 |
625 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1269001777 CA362297924 |
635 | R>C | No |
ClinGen gnomAD |
|
|
CA3576588 rs779380798 |
635 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA3576590 rs778323767 |
636 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746619070 CA3576592 |
637 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768319803 CA3576593 |
638 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA362297950 rs1366096121 |
638 | H>Y | No |
ClinGen gnomAD |
|
|
CA362297966 rs1294294870 |
639 | H>R | No |
ClinGen gnomAD |
|
|
rs776049235 CA3576594 |
639 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761369768 CA3576595 |
640 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA3576597 rs371331546 |
640 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs878987449 CA132833775 |
640 | I>S | No |
ClinGen Ensembl |
|
|
CA3576596 rs761369768 |
640 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1582018897 CA362297988 |
641 | D>V | No |
ClinGen Ensembl |
|
|
CA3576599 rs766227552 |
642 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA3576598 rs762855027 |
642 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3576600 rs752999975 |
643 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362298006 rs1391800198 |
643 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs937173838 CA132833782 |
646 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
COSM1311002 rs776973649 CA3576624 |
650 | R>C | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1172824038 CA362298119 COSM116950 |
650 | R>H | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA362298122 rs1172824038 |
650 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1474938687 CA362298179 |
655 | W>* | No |
ClinGen gnomAD |
|
|
rs780521793 CA3576626 |
657 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA362298256 rs1490727566 |
662 | F>L | No |
ClinGen TOPMed |
|
|
CA3576629 rs780720945 |
664 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs769459268 CA3576631 |
664 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780720945 CA3576630 |
664 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA132833966 rs373767558 |
665 | V>M | No |
ClinGen ESP TOPMed |
|
|
CA132833967 rs1029191928 |
666 | Y>F | No |
ClinGen TOPMed |
|
|
rs1199129089 CA362298311 |
667 | T>A | No |
ClinGen TOPMed |
|
|
rs1362063586 CA362298317 |
667 | T>R | No |
ClinGen gnomAD |
|
|
rs777465841 CA3576632 |
670 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA3576633 rs748784864 |
670 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3576635 rs775373903 |
672 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1274753663 CA362298663 |
685 | L>F | No |
ClinGen gnomAD |
|
|
rs1292340652 CA362298774 |
693 | I>V | No |
ClinGen gnomAD |
|
|
CA362298811 rs1197844621 |
695 | V>A | No |
ClinGen gnomAD |
|
|
CA362298892 rs779848143 |
700 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA3576675 rs779848143 |
700 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs199817274 CA3576674 |
700 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3576678 rs773444367 |
701 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs768379807 CA3576677 |
701 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs759521008 CA3576682 |
703 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576681 rs774539398 |
703 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1246866294 CA362298955 |
705 | G>E | No |
ClinGen gnomAD |
|
|
CA362298966 rs1286055127 |
706 | H>R | No |
ClinGen gnomAD |
|
|
rs761135791 CA3576685 |
707 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273379308 CA362298998 |
708 | M>L | No |
ClinGen gnomAD |
|
|
CA3576687 rs753579787 |
709 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196666686 CA362299034 |
710 | R>* | No |
ClinGen gnomAD |
|
|
CA3576688 rs140492176 |
710 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1366235525 CA362299067 |
712 | P>L | No |
ClinGen gnomAD |
|
|
CA3576691 rs757777042 |
712 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576692 rs780050403 |
713 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201521249 CA362299103 |
714 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146533162 CA362299130 |
716 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146533162 CA3576695 |
716 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3576696 rs146533162 |
716 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3576697 rs747914630 |
717 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA362299132 rs1400966919 |
717 | E>K | No |
ClinGen TOPMed |
|
|
rs983083191 CA132834357 |
718 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA3576720 rs371591154 |
720 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141240325 CA132834749 |
720 | G>V | No |
ClinGen ESP gnomAD |
|
|
rs371591154 CA132834748 |
720 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1192504920 CA362299235 |
722 | M>V | No |
ClinGen gnomAD |
|
|
CA3576722 rs201490532 COSM1436250 |
723 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs145143718 CA3576723 |
723 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201490532 CA3576721 |
723 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA362299275 rs1375097850 |
726 | W>* | No |
ClinGen TOPMed |
|
|
CA362299274 rs1581062875 |
726 | W>* | No |
ClinGen Ensembl |
|
|
rs1031290542 CA132834778 |
727 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs777207919 CA3576724 COSM1436252 |
728 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs762248084 CA3576725 |
729 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1362543737 CA362299328 |
732 | Q>* | No |
ClinGen gnomAD |
|
|
rs762551518 CA3576728 |
736 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759042869 CA3576731 |
742 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576734 rs752520209 |
743 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs763759469 CA3576735 |
744 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753639933 CA3576736 |
745 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA362299499 rs1358424794 |
748 | L>P | No |
ClinGen TOPMed |
|
|
rs890887063 CA132834846 |
749 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs866922351 CA132834850 |
749 | A>V | No |
ClinGen Ensembl |
|
|
rs143758924 CA3576738 |
750 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747086118 CA3576739 |
752 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA362299550 rs1562078782 |
753 | E>V | No |
ClinGen Ensembl |
|
|
rs764009243 CA3576771 |
754 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA3576772 rs192201146 |
756 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3576773 rs761719945 |
757 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA132835141 rs955680763 |
757 | L>R | No |
ClinGen Ensembl |
|
|
rs148143006 CA3576775 |
758 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759861753 CA3576776 |
758 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA3576780 rs756214271 |
762 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1163220407 CA362299688 |
762 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs756214271 CA3576779 |
762 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs754320764 CA3576781 |
763 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3576784 rs746179714 |
765 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs779278687 CA3576783 |
765 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3576785 rs746179714 |
765 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs746562591 CA3576787 |
766 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576786 rs779686518 |
766 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756117219 CA3576788 |
768 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA3576790 rs116536953 |
769 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3576792 rs773156267 |
770 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1581063655 CA362299770 |
771 | A>T | No |
ClinGen Ensembl |
|
|
CA3576794 rs370297992 |
773 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752951653 CA3576795 |
774 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA362299805 rs1436217943 |
775 | C>S | No |
ClinGen TOPMed |
|
|
rs757780576 CA3576799 |
776 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3576798 rs753872428 |
776 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs188755817 CA3576801 |
778 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758782236 CA3576802 |
779 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs572318487 CA132835296 |
780 | S>Y | No |
ClinGen 1000Genomes gnomAD |
|
|
CA3576803 rs779626910 |
781 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362299911 rs1421126209 |
785 | D>A | No |
ClinGen gnomAD |
|
|
rs931274193 CA362299907 |
785 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs931274193 CA132835308 |
785 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1296037950 CA362299922 |
786 | P>S | No |
ClinGen gnomAD |
|
|
CA3576805 rs147384774 |
787 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3576806 rs373564202 |
787 | L>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs773279466 CA3576809 |
790 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA362300010 rs1219065812 |
794 | F>Y | No |
ClinGen gnomAD |
|
|
CA132835327 rs201205907 |
796 | F>L | No |
ClinGen 1000Genomes |
|
|
rs200649056 CA3576813 |
797 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200649056 CA3576812 |
797 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs764171419 CA3576815 |
799 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA3576817 rs761810789 |
800 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA362300080 rs765796394 |
801 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA3576818 rs765796394 |
801 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs551082604 CA3576820 |
802 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs551082604 CA362300091 |
802 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1156440724 CA362300107 |
803 | T>L | No |
ClinGen gnomAD |
|
|
CA564491408 rs1441047885 |
803 | T>S | No |
ClinGen gnomAD |
|
|
rs1159660376 CA362300112 |
803 | T>W | No |
ClinGen TOPMed |
1 associated diseases with P22455
Without disease ID
14 regional properties for P22455
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 467 - 755 | IPR000719 |
| domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 468 - 743 | IPR001245 |
| domain | Immunoglobulin subtype 2 | 48 - 108 | IPR003598-1 |
| domain | Immunoglobulin subtype 2 | 163 - 231 | IPR003598-2 |
| domain | Immunoglobulin subtype 2 | 262 - 340 | IPR003598-3 |
| domain | Immunoglobulin subtype | 42 - 116 | IPR003599-1 |
| domain | Immunoglobulin subtype | 157 - 242 | IPR003599-2 |
| domain | Immunoglobulin subtype | 256 - 351 | IPR003599-3 |
| domain | Immunoglobulin-like domain | 152 - 240 | IPR007110-1 |
| domain | Immunoglobulin-like domain | 249 - 349 | IPR007110-2 |
| active_site | Tyrosine-protein kinase, active site | 608 - 620 | IPR008266 |
| domain | Immunoglobulin I-set | 161 - 236 | IPR013098 |
| binding_site | Protein kinase, ATP binding site | 473 - 503 | IPR017441 |
| domain | Tyrosine-protein kinase, catalytic domain | 467 - 743 | IPR020635 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.10.1 | Protein-tyrosine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| 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. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| 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. |
| 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. |
| transport vesicle | Any of the vesicles of the constitutive secretory pathway, which carry cargo from the endoplasmic reticulum to the Golgi, between Golgi cisternae, from the Golgi to the ER (retrograde transport) or to destinations within or outside the cell. |
6 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. |
| 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. |
| 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. |
18 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. |
| cholesterol homeostasis | Any process involved in the maintenance of an internal steady state of cholesterol within an organism or 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. |
| glucose homeostasis | Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. |
| peptidyl-tyrosine phosphorylation | The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine. |
| phosphate ion homeostasis | Any process involved in the maintenance of an internal steady state of phosphate ions within an organism or cell. |
| positive regulation of catalytic activity | Any process that activates or increases the activity of an enzyme. |
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
| positive regulation of DNA biosynthetic process | Any process that activates or increases the frequency, rate or extent of DNA biosynthetic process. |
| positive regulation of ERK1 and ERK2 cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| 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 proteolysis | Any process that activates or increases the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein. |
| 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). |
| regulation of bile acid biosynthetic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of bile acids. |
| regulation of extracellular matrix disassembly | Any process that modulates the rate, frequency or extent of extracellular matrix disassembly. Extracellular matrix disassembly is a process that results in the breakdown of the extracellular matrix. |
| regulation of lipid metabolic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids. |
| 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 |
| P21804 | FGFR1 | Fibroblast growth factor receptor 1 | Gallus gallus (Chicken) | 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 |
| 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 |
| P11362 | FGFR1 | Fibroblast growth factor receptor 1 | Homo sapiens (Human) | EV |
| P21802 | FGFR2 | Fibroblast growth factor receptor 2 | Homo sapiens (Human) | EV |
| 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 |
| 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 |
| Q03142 | Fgfr4 | Fibroblast growth factor receptor 4 | Mus musculus (Mouse) | PR |
| 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 |
| Q04589 | Fgfr1 | Fibroblast growth factor receptor 1 | 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 |
| 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 |
| 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 |
| Q90413 | fgfr4 | Fibroblast growth factor receptor 4 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRLLLALLGV | LLSVPGPPVL | SLEASEEVEL | EPCLAPSLEQ | QEQELTVALG | QPVRLCCGRA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ERGGHWYKEG | SRLAPAGRVR | GWRGRLEIAS | FLPEDAGRYL | CLARGSMIVL | QNLTLITGDS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LTSSNDDEDP | KSHRDPSNRH | SYPQQAPYWT | HPQRMEKKLH | AVPAGNTVKF | RCPAAGNPTP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TIRWLKDGQA | FHGENRIGGI | RLRHQHWSLV | MESVVPSDRG | TYTCLVENAV | GSIRYNYLLD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VLERSPHRPI | LQAGLPANTT | AVVGSDVELL | CKVYSDAQPH | IQWLKHIVIN | GSSFGADGFP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YVQVLKTADI | NSSEVEVLYL | RNVSAEDAGE | YTCLAGNSIG | LSYQSAWLTV | LPEEDPTWTA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AAPEARYTDI | ILYASGSLAL | AVLLLLAGLY | RGQALHGRHP | RPPATVQKLS | RFPLARQFSL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ESGSSGKSSS | SLVRGVRLSS | SGPALLAGLV | SLDLPLDPLW | EFPRDRLVLG | KPLGEGCFGQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VVRAEAFGMD | PARPDQASTV | AVKMLKDNAS | DKDLADLVSE | MEVMKLIGRH | KNIINLLGVC |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TQEGPLYVIV | ECAAKGNLRE | FLRARRPPGP | DLSPDGPRSS | EGPLSFPVLV | SCAYQVARGM |
| 610 | 620 | 630 | 640 | 650 | 660 |
| QYLESRKCIH | RDLAARNVLV | TEDNVMKIAD | FGLARGVHHI | DYYKKTSNGR | LPVKWMAPEA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LFDRVYTHQS | DVWSFGILLW | EIFTLGGSPY | PGIPVEELFS | LLREGHRMDR | PPHCPPELYG |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LMRECWHAAP | SQRPTFKQLV | EALDKVLLAV | SEEYLDLRLT | FGPYSPSGGD | ASSTCSSSDS |
| 790 | 800 | ||||
| VFSHDPLPLG | SSSFPFGSGV | QT |