Q16832
SS
Gene name |
DDR2 (NTRKR3, TKT, TYRO10) |
Protein name |
Discoidin domain-containing receptor 2 |
Names |
Discoidin domain receptor 2, CD167 antigen-like family member B, Discoidin domain-containing receptor tyrosine kinase 2, Neurotrophic tyrosine kinase receptor-related 3, Receptor protein-tyrosine kinase TKT, Tyrosine-protein kinase TYRO10, CD antigen CD167b |
Species |
Schizosaccharomyces pombe (strain 972 / ATCC 24843) (Fission yeast) |
KEGG Pathway |
hsa:4921 |
EC number |
3.1.3.16: Phosphoric monoester hydrolases |
Protein Class |
|
Descriptions
(Annotation from UniProt)
The TPR repeats mediate protein-protein interactions with substrate proteins, but also autoinhibit PPT phosphatase activity.
Autoinhibitory domains (AIDs)
Target domain |
563-849 (Protein kinase domain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
727-752 (Activation loop from InterPro)
Target domain |
563-849 (Protein kinase domain) |
Relief mechanism |
PTM |
Assay |
|
References
- 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
- 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
- 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
- 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,
- 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
5 structures for Q16832
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2WUH | X-ray | 160 A | A | 26-190 | PDB |
| 2Z4F | NMR | - | A | 26-186 | PDB |
| 6FER | X-ray | 287 A | A/B/C/D/E/F/G/H/I/J/K/L | 553-855 | PDB |
| 7AZB | X-ray | 262 A | A | 26-190 | PDB |
| AF-Q16832-F1 | Predicted | AlphaFoldDB |
546 variants for Q16832
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs369864432 RCV002536727 RCV000778190 |
1 | M>R | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001096165 rs1663295489 |
34 | L>M | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs144594252 RCV000431139 RCV000429539 RCV001851014 CA1217196 |
63 | L>V | Squamous cell lung carcinoma Non-small cell lung carcinoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA144659 rs397514747 RCV001377778 COSM310506 RCV000054530 VAR_065719 |
113 | E>K | lung Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome SEMD-SL; abolishes collagen binding [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
| VAR_075417 | 124 | R>W | SEMD-SL [UniProt] | Yes | UniProt |
|
RCV000514480 CA1217222 rs149507401 RCV000312922 |
128 | R>H | Variant assessed as Somatic; 0.0 impact. Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001850492 RCV000369732 rs145611112 CA1217257 |
159 | I>T | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs200233661 RCV001335384 CA1217259 |
165 | R>Q | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1217261 rs201573606 RCV000714577 RCV000917056 |
170 | T>S | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1384006128 RCV001097911 CA343406133 |
174 | M>V | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs760194869 CA343408247 RCV000778191 |
231 | Q>* | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001859753 rs578015216 CA1217327 RCV000277507 |
239 | L>P | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs578015216 CA16602598 RCV000439780 |
239 | L>R | Squamous cell lung carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000441392 RCV000421258 CA16602599 rs376303676 |
253 | G>C | Squamous cell lung carcinoma Non-small cell lung carcinoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs200965319 CA1217339 RCV002519405 RCV000354735 |
260 | R>W | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1261057547 RCV001332741 CA343408615 |
278 | I>N | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001097915 rs775988886 RCV002554917 CA1217380 |
307 | R>C | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000262600 RCV002278334 RCV000900578 rs189870832 CA1217382 |
311 | S>N | Connective tissue disorder Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs753466072 CA1217432 RCV000376966 RCV001859754 |
381 | P>R | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1217435 RCV001345854 RCV002547450 rs749852883 |
385 | T>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002279700 RCV001513481 CA31810116 RCV001099701 rs34722354 CA1217493 VAR_041499 |
441 | M>I | Connective tissue disorder Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [ClinVar] | Yes |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar UniProt dbSNP |
|
RCV002543848 CA1217523 rs199526949 RCV001323199 |
488 | I>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM4140910 RCV002522066 RCV000323660 CA1217579 rs573628844 COSM4140911 |
503 | C>S | kidney Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA1217584 rs115169993 RCV000420230 RCV000431522 RCV000320621 RCV000901354 |
505 | G>S | Squamous cell lung carcinoma Non-small cell lung carcinoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000714481 rs1558079436 VAR_081931 CA343413110 |
610 | L>P | Warburg-cinotti syndrome WRCN; increased autophosphorylation in patient fibroblasts [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
rs928746429 RCV000778192 CA31812655 |
611 | R>* | Variant assessed as Somatic; impact. Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000430445 rs1057519789 CA16602600 RCV000439136 |
638 | I>F | Squamous cell lung carcinoma Non-small cell lung carcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs754868982 RCV001101689 CA1217680 |
668 | R>H | Variant assessed as Somatic; 0.0 impact. Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs377626332 CA1217722 RCV000380648 RCV000953431 RCV002278335 |
690 | M>V | Connective tissue disorder Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_063050 CA122125 RCV000013108 rs121964865 |
713 | T>I | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome SEMD-SL; causes retention in an intracellular compartment and thereby abolishes signaling in response collagen binding [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
VAR_063051 rs121964864 RCV000013107 CA122124 |
726 | I>R | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome SEMD-SL; causes retention in an intracellular compartment and thereby abolishes signaling in response collagen binding [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_081932 rs1558081627 CA343416101 RCV000755661 RCV001772016 |
740 | Y>C | Warburg-cinotti syndrome WRCN; increased autophosphorylation in patient fibroblasts [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
rs771259035 CA1217747 RCV000288571 |
746 | R>Q | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1668169 RCV000013106 CA122123 VAR_063052 rs121964863 COSM1668168 |
752 | R>C | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome haematopoietic_and_lymphoid_tissue SEMD-SL; causes retention in an intracellular compartment and thereby abolishes signaling in response collagen binding [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
COSM424428 rs1374086542 RCV002250750 RCV001346920 CA343416288 COSM1472911 |
752 | R>H | Variant assessed as Somatic; 0.0 impact. Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
rs267598140 CA16602365 CA31816882 RCV000423026 RCV000437846 |
768 | S>R | Squamous cell carcinoma Non-small cell lung carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000421396 RCV000440691 CA16602601 rs1057519790 |
774 | G>V | Squamous cell lung carcinoma Non-small cell lung carcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000714576 CA343417179 rs1558083144 |
796 | Q>L | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001850493 RCV000383023 CA1217775 rs762649297 |
799 | E>D | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA31817828 RCV001096264 RCV002555982 rs141409742 |
835 | D>G | Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1356835812 CA343402938 |
4 | I>L | No |
ClinGen gnomAD |
|
|
CA1217139 rs771747956 |
5 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1314157812 CA343403061 |
9 | L>F | No |
ClinGen TOPMed |
|
|
CA1217140 rs775402435 |
10 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746632150 CA1217141 |
12 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA343403213 rs1442169517 |
17 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1362799695 CA343403360 |
23 | A>P | No |
ClinGen TOPMed |
|
|
CA343403395 rs1471674808 |
24 | Q>R | No |
ClinGen gnomAD |
|
|
CA343403471 rs1571238603 |
27 | P>L | No |
ClinGen Ensembl |
|
|
rs1411228765 RCV001324268 |
27 | P>S | No |
ClinVar dbSNP |
|
|
rs1411228765 CA343403456 |
27 | P>T | No |
ClinGen gnomAD |
|
|
CA343403962 rs1322190335 |
28 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs775988877 RCV001810672 |
29 | I>L | No |
ClinVar dbSNP |
|
|
rs1350272680 CA343403972 |
29 | I>T | No |
ClinGen gnomAD |
|
|
rs775988877 CA1217169 |
29 | I>V | No |
ClinGen ExAC gnomAD |
|
|
RCV001350692 CA1217170 rs761583917 |
31 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA343404006 rs1340393535 |
31 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1217171 rs764505156 |
32 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1275560017 CA343404031 |
33 | P>S | No |
ClinGen gnomAD |
|
|
CA1217172 rs754042880 |
36 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343404072 rs1340581548 |
36 | M>T | No |
ClinGen TOPMed |
|
|
rs754042880 CA343404062 |
36 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757544947 CA1217173 |
37 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450948899 CA343404151 |
41 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA343404172 rs1358458622 |
42 | P>L | No |
ClinGen TOPMed |
|
|
CA343404262 rs1421227494 |
48 | A>T | No |
ClinGen TOPMed |
|
|
rs1194117620 CA343404273 |
48 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 50 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1254693624 CA343404344 |
52 | W>C | No |
ClinGen gnomAD |
|
|
rs750478617 CA1217175 |
54 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs370356750 CA1217176 |
55 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1217178 rs746947350 |
60 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343404982 rs1261100286 |
64 | D>N | Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1489562336 CA343405020 |
69 | D>V | No |
ClinGen gnomAD |
|
|
CA343405070 rs1255019252 |
76 | I>T | No |
ClinGen gnomAD |
|
|
rs985797982 CA31791878 |
76 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs772670482 CA31791882 |
77 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA343405078 rs1189436808 |
78 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1217200 rs777417346 |
79 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA343405092 rs1241047286 |
80 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1241047286 CA343405093 |
80 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs138537887 CA1217203 RCV000901404 |
81 | D>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs748960083 CA1217201 |
81 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs747479847 CA343405112 |
83 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1183289819 CA343405131 COSM2154404 COSM2154403 |
85 | E>D | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1286548568 CA343405157 |
89 | I>T | No |
ClinGen gnomAD |
|
|
rs777147820 CA1217206 |
90 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1217207 rs762182721 |
91 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs773478881 CA1217209 |
94 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs763142947 CA1217210 |
96 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 98 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1217211 rs770752518 |
98 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212499835 RCV001315828 CA343405226 |
100 | V>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
COSM1335755 CA1217213 rs759709680 COSM1335754 |
105 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA31791950 rs1041487062 |
105 | R>H | No |
ClinGen gnomAD |
|
| VAR_041498 | 105 | R>S | a lung large cell carcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA31791956 rs902985089 |
106 | H>R | No |
ClinGen Ensembl |
|
|
CA1217214 rs767503089 |
108 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 110 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1299389424 CA343405375 |
114 | F>S | No |
ClinGen TOPMed |
|
|
rs1054756291 CA31792010 |
115 | A>D | No |
ClinGen Ensembl |
|
|
RCV001009270 rs1571295161 |
117 | M>missing | No |
ClinVar dbSNP |
|
|
rs1047893685 CA31792016 |
117 | M>T | No |
ClinGen TOPMed |
|
|
rs1218916882 CA343405402 |
117 | M>V | No |
ClinGen TOPMed |
|
|
CA31792022 rs894372962 |
118 | Y>H | No |
ClinGen gnomAD |
|
|
rs1571295195 CA343405426 |
119 | K>Q | No |
ClinGen Ensembl |
|
|
CA1217219 rs753505905 |
121 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343405480 rs1306367979 |
123 | S>C | No |
ClinGen gnomAD |
|
|
CA1217220 rs756942296 |
126 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA343405524 rs1298716106 |
127 | T>I | No |
ClinGen gnomAD |
|
|
rs778566598 CA1217221 |
128 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA31792054 rs879065950 |
133 | R>Q | No |
ClinGen gnomAD |
|
|
COSM3740798 CA1217223 COSM3740797 rs757919179 |
133 | R>W | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA1217224 COSM3689105 rs371333028 COSM3689104 |
135 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs371333028 CA1217225 |
135 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767283136 COSM898776 CA1217226 |
135 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1217228 rs749493054 |
136 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA1217227 rs376242608 |
136 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs535402738 CA31792089 |
137 | G>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA1217245 rs756623313 |
140 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA343405728 rs1176971781 |
143 | G>E | No |
ClinGen TOPMed |
|
|
CA343405739 rs1411758408 |
144 | N>S | No |
ClinGen gnomAD |
|
|
CA31792365 rs948661149 |
145 | S>G | No |
ClinGen Ensembl |
|
|
rs201150529 CA1217246 RCV000271619 |
146 | N>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1217248 rs771423959 |
148 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746147175 CA1217250 |
149 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs775472539 CA1217252 |
151 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs1291613281 CA343405841 |
153 | K>N | No |
ClinGen TOPMed |
|
|
rs760839128 CA1217253 |
157 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA343405885 rs760839128 |
157 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1571295864 CA343405881 |
157 | P>T | No |
ClinGen Ensembl |
|
|
rs761530786 CA1217256 |
158 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs761530786 CA343405898 |
158 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA343405901 rs1337564334 |
159 | I>V | No |
ClinGen gnomAD |
|
|
rs750063672 CA1217258 |
161 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA343405930 rs1334754696 |
162 | R>G | No |
ClinGen TOPMed |
|
|
CA31792406 rs542584476 |
165 | R>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA1217260 rs765885307 |
167 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1386838528 CA343406071 |
170 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA343406074 rs1386838528 |
170 | T>S | No |
ClinGen TOPMed |
|
|
CA1217264 rs149052593 |
171 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1217263 rs778072557 |
171 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs1476149490 CA343406110 |
172 | H>R | No |
ClinGen gnomAD |
|
|
CA1217265 rs202091759 |
173 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA343406158 rs1223835910 |
174 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1268350692 CA343406143 |
174 | M>T | No |
ClinGen TOPMed |
|
|
rs1490997323 CA343406170 |
175 | N>S | No |
ClinGen TOPMed |
|
|
CA1217267 rs375797799 |
182 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343406370 rs1279756602 |
184 | G>S | No |
ClinGen TOPMed |
|
|
rs780343764 CA1217269 |
185 | C>S | No |
ClinGen ExAC |
|
| TCGA novel | 186 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1558067651 CA343406694 |
192 | V>E | No |
ClinGen Ensembl |
|
|
rs889257496 CA31792794 |
193 | S>C | No |
ClinGen Ensembl |
|
|
CA31792812 rs1008158835 |
195 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs780075289 CA1217287 |
196 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1217290 rs781298141 |
198 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA1217289 rs768606333 |
198 | A>T | No |
ClinGen ExAC |
|
|
CA31792838 rs773746096 |
200 | Q>R | No |
ClinGen gnomAD |
|
|
rs557254647 CA1217291 |
204 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1217293 rs773159664 |
207 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282718270 CA343407085 |
209 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA343407093 rs1340186070 |
210 | I>V | No |
ClinGen gnomAD |
|
|
CA1217295 rs770824472 |
211 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs762600142 CA1217294 |
211 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA1217296 rs773858562 |
212 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA343407246 rs1250941928 |
218 | D>G | No |
ClinGen gnomAD |
|
|
CA1217297 rs759279024 |
220 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767100531 CA1217299 |
224 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1217298 rs767100531 |
224 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA31800267 rs921329017 |
225 | M>T | No |
ClinGen Ensembl |
|
|
rs1163458172 CA343408169 |
225 | M>V | No |
ClinGen gnomAD |
|
|
rs1270686569 CA343408191 |
226 | T>R | No |
ClinGen TOPMed |
|
| TCGA novel | 227 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760194869 COSM140388 CA1217320 |
231 | Q>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM1290032 COSM1290033 CA1217322 rs773580613 |
234 | D>N | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1381891916 CA343408308 |
235 | G>D | No |
ClinGen gnomAD |
|
|
rs200262214 CA1217324 |
236 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343408374 rs1334993596 |
242 | F>S | No |
ClinGen TOPMed |
|
|
rs1571301968 CA343408395 |
245 | T>N | No |
ClinGen Ensembl |
|
|
CA343408402 rs1321838803 |
246 | H>R | No |
ClinGen TOPMed |
|
|
CA343408425 rs1214179680 |
249 | H>P | No |
ClinGen gnomAD |
|
|
CA1217328 rs756170216 |
249 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370466792 CA1217330 |
250 | V>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1484743299 CA343408429 |
250 | V>M | No |
ClinGen gnomAD |
|
|
COSM1499487 rs376303676 COSM1499486 CA1217332 |
253 | G>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1571302027 CA343408453 |
254 | Y>N | No |
ClinGen Ensembl |
|
|
rs745618882 CA1217333 |
254 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs370731229 CA1217335 |
255 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375604173 CA343408465 |
255 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1217334 rs370731229 |
255 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1217337 rs768261759 |
257 | V>L | No |
ClinGen ExAC |
|
|
CA343408481 rs1362443005 |
258 | G>C | No |
ClinGen gnomAD |
|
|
rs776244974 CA1217338 |
259 | W>G | No |
ClinGen ExAC |
|
|
rs139577393 CA1217341 |
260 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139577393 CA31800383 |
260 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10606438 RCV000261873 rs752891309 |
262 | E>D | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV000658338 rs371402503 CA1217343 |
262 | E>K | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA343408526 rs1192451975 |
265 | T>N | No |
ClinGen TOPMed |
|
|
rs1356127876 CA343408534 |
266 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA343408549 rs1233846563 |
268 | Y>* | No |
ClinGen gnomAD |
|
|
CA31800446 rs953292325 |
269 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs760923418 CA1217345 |
269 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs764251006 CA1217346 |
271 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA31800458 rs772616496 |
272 | M>T | No |
ClinGen Ensembl |
|
|
rs373748687 CA1217348 |
272 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1208195954 CA343408590 |
274 | E>G | No |
ClinGen gnomAD |
|
|
CA1217349 rs778841775 |
275 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 276 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1217350 rs750450749 |
277 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1217351 rs189746891 |
278 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 279 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1217353 rs746630159 |
283 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1217354 COSM3667397 rs768384575 COSM3667396 |
285 | K>E | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1168448226 CA343409014 |
286 | V>A | No |
ClinGen gnomAD |
|
|
rs747825000 CA1217375 |
286 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs745941113 COSM166514 CA31801808 |
291 | M>I | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1459823073 CA343409090 |
291 | M>L | No |
ClinGen TOPMed |
|
|
rs1558071155 CA343409133 |
293 | A>P | No |
ClinGen Ensembl |
|
|
CA1217376 rs140918772 |
299 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA343409232 rs1378895579 |
301 | E>K | No |
ClinGen gnomAD |
|
|
rs772515114 CA1217379 |
306 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1217381 rs747307320 |
307 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1306364923 CA343409313 |
308 | S>P | No |
ClinGen gnomAD |
|
|
CA1217383 rs189870832 |
311 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343409383 rs1458324843 |
314 | E>K | No |
ClinGen TOPMed |
|
|
rs1558071250 CA343409414 |
316 | N>S | No |
ClinGen Ensembl |
|
|
CA343409430 rs1193390242 |
318 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA343409429 rs1193390242 |
318 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs761991484 CA1217384 |
319 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1217385 rs765330930 |
320 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1217386 rs773385890 |
322 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773385890 CA343409464 |
322 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 323 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1217387 rs376834703 |
324 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1217389 rs183287339 |
327 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754801044 CA1217390 |
328 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA343409539 rs1268023328 |
329 | P>S | No |
ClinGen gnomAD |
|
|
CA1217392 rs752360996 |
332 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA343409571 rs752360996 COSM898780 COSM1472906 |
332 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
RCV001297563 rs147483979 CA1217394 |
335 | T>M | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA343409624 rs1213546369 |
337 | P>L | No |
ClinGen gnomAD |
|
|
CA343409630 rs1274236205 |
338 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1241709692 CA343409666 |
341 | R>* | No |
ClinGen gnomAD |
|
|
rs769041297 CA1217400 |
341 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs769041297 CA1217399 |
341 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1571304493 CA343409686 |
343 | A>D | No |
ClinGen Ensembl |
|
|
rs775649903 CA343409694 |
344 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs775649903 CA31801953 |
344 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs769860361 CA1217403 |
350 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA1217405 rs763064417 |
351 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1418370484 CA343409797 |
352 | F>L | No |
ClinGen gnomAD |
|
|
CA1217406 rs766637472 |
353 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA343409816 rs1323940830 |
354 | D>A | No |
ClinGen TOPMed |
|
|
CA343409829 rs1558071485 |
355 | T>I | No |
ClinGen Ensembl |
|
|
rs1344227149 CA343409870 |
358 | M>I | No |
ClinGen gnomAD |
|
|
CA31802036 rs761041272 |
360 | S>C | No |
ClinGen Ensembl |
|
|
rs1352979662 CA343409924 |
363 | T>A | No |
ClinGen gnomAD |
|
|
CA343409948 rs1358952628 |
365 | Q>* | No |
ClinGen gnomAD |
|
|
rs1232116840 CA343410078 |
368 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA343410079 rs1232116840 |
368 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs140556967 CA1217427 |
370 | M>T | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA1217429 rs778666175 |
374 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1433620058 CA343410132 |
376 | A>T | No |
ClinGen gnomAD |
|
|
CA343410137 rs1172668022 |
376 | A>V | No |
ClinGen gnomAD |
|
|
CA1217431 rs763932449 |
379 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 383 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs137924775 CA1217433 |
384 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1217436 rs757941364 |
385 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 386 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343410200 rs1455828922 |
387 | Y>C | No |
ClinGen TOPMed |
|
|
rs1411435223 CA343410203 |
388 | D>N | No |
ClinGen TOPMed |
|
|
CA1217453 rs149102817 |
390 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA343410231 rs1210114531 |
390 | M>V | No |
ClinGen gnomAD |
|
|
CA1217454 rs750097244 |
392 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA343410267 rs1403575672 |
395 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA343410281 rs1455116371 |
397 | N>H | No |
ClinGen TOPMed |
|
|
rs765973930 CA1217456 |
399 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs762369382 COSM1583688 CA1217455 COSM898784 |
399 | R>W | endometrium Variant assessed as Somatic; 9.239e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA343410298 rs1479107886 |
400 | I>L | No |
ClinGen gnomAD |
|
|
CA343410308 rs1417662811 |
401 | L>P | No |
ClinGen gnomAD |
|
|
rs753126978 CA1217457 |
402 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs756728715 CA1217458 |
404 | C>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs756728715 CA1217459 |
404 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1571312677 CA343410340 |
406 | V>G | No |
ClinGen Ensembl |
|
|
rs375381005 CA1217461 |
407 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1217462 rs778996377 |
407 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1571312706 CA343410345 |
408 | I>L | No |
ClinGen Ensembl |
|
|
rs1320935315 CA343410406 |
417 | V>F | No |
ClinGen gnomAD |
|
|
CA343410422 rs1486535694 |
419 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1217467 rs768533637 |
421 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA31807566 rs866018415 |
425 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 425 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 428 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 430 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343410503 rs1348107307 |
430 | E>G | No |
ClinGen gnomAD |
|
|
rs776562909 CA343410501 |
430 | E>K | No |
ClinGen ExAC TOPMed |
|
|
rs776562909 CA1217468 |
430 | E>Q | No |
ClinGen ExAC TOPMed |
|
|
CA343410514 rs1204148332 |
431 | K>N | No |
ClinGen gnomAD |
|
|
rs748144091 CA1217490 |
434 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1217489 rs781104392 |
434 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382397912 CA343410785 |
435 | R>W | No |
ClinGen gnomAD |
|
|
rs1173095516 CA343410794 |
436 | M>L | No |
ClinGen gnomAD |
|
|
CA343410799 rs1359773681 |
436 | M>T | No |
ClinGen gnomAD |
|
|
CA343410809 rs1466510994 |
437 | L>P | No |
ClinGen gnomAD |
|
|
rs1394122450 CA343410815 |
438 | D>Y | No |
ClinGen gnomAD |
|
|
rs1445773470 CA343410827 |
439 | D>H | No |
ClinGen gnomAD |
|
|
rs1309601791 CA343410841 |
440 | E>* | No |
ClinGen gnomAD |
|
|
rs1378667363 CA343410855 |
441 | M>K | No |
ClinGen gnomAD |
|
|
CA343410864 rs1197399793 |
442 | T>A | No |
ClinGen TOPMed |
|
|
rs1300024949 CA343410867 |
442 | T>I | No |
ClinGen gnomAD |
|
|
rs1274987249 CA343410875 |
443 | V>L | No |
ClinGen TOPMed |
|
|
rs1212920521 CA343410924 |
448 | P>T | No |
ClinGen gnomAD |
|
|
rs150920581 CA1217495 |
451 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1571316841 RCV001002318 CA343410972 |
452 | S>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs767190591 CA1217497 |
453 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1378169547 CA343410979 |
453 | M>V | No |
ClinGen TOPMed |
|
|
rs1240341071 CA343411001 |
454 | F>C | No |
ClinGen gnomAD |
|
|
rs1284506603 CA343411011 |
455 | N>D | No |
ClinGen TOPMed |
|
|
rs762421529 CA1217499 |
455 | N>S | No |
ClinGen ExAC |
|
|
rs1449976338 CA343411021 |
456 | N>D | No |
ClinGen TOPMed |
|
|
COSM48314 CA343411025 rs1374888421 |
456 | N>S | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA343411049 rs1193186486 |
458 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1193186486 CA343411047 |
458 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1217500 rs189206909 |
458 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs189206909 CA343411053 |
458 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1217501 rs750750022 |
459 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1217504 rs140710321 |
461 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1217503 rs140710321 RCV000514701 RCV000403370 |
461 | S>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1217505 rs755039636 |
463 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1415162860 CA343411099 |
464 | E>K | No |
ClinGen TOPMed |
|
|
CA1217507 rs752602894 |
465 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1165305470 CA343411127 |
466 | G>A | No |
ClinGen TOPMed |
|
|
rs777597551 CA1217509 |
468 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs749040833 CA1217510 |
469 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1438245445 CA343411161 |
470 | T>A | No |
ClinGen TOPMed |
|
|
rs745562320 CA343411180 |
471 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219740609 RCV001324634 CA343411185 |
472 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA1217514 rs771675675 |
473 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1217515 rs775098890 COSM1648427 COSM530257 |
473 | R>H | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs775098890 CA343411204 |
473 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA31810233 rs958394700 |
474 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA343411212 rs958394700 |
474 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs760125766 CA1217516 |
475 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA343411225 rs1489537245 |
475 | F>L | No |
ClinGen gnomAD |
|
|
rs1457802128 CA343411228 |
476 | P>T | No |
ClinGen TOPMed |
|
|
rs34869543 VAR_041500 CA1217517 |
478 | R>C | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs773598662 COSM280329 CA1217518 |
478 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs773598662 CA343411250 |
478 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA1217520 rs766789378 |
483 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1217522 rs759797275 |
485 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs752778008 CA343411319 |
489 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343411318 rs752778008 |
489 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756149068 CA1217525 |
489 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1217526 rs369355435 |
490 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs757051385 CA1217529 |
492 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1217528 rs757051385 |
492 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1217530 COSM207447 rs745687175 |
493 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1291790073 CA343411362 |
496 | P>S | No |
ClinGen TOPMed |
|
|
rs771800247 CA1217531 |
497 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213864356 CA343411387 |
500 | E>K | No |
ClinGen gnomAD |
|
|
rs1259672230 CA343411398 |
501 | S>* | No |
ClinGen gnomAD |
|
|
CA343411403 rs1262598602 |
502 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1217578 rs772392689 |
503 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs768702283 CA1217581 |
504 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA1217583 rs199900233 |
504 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1217585 rs773261705 |
506 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA343411779 rs1318420032 |
506 | V>I | No |
ClinGen gnomAD |
|
|
rs763025894 CA1217586 |
508 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA1217587 rs201904366 |
510 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343411821 rs1298719448 |
513 | S>G | No |
ClinGen TOPMed |
|
|
rs1463310802 CA343411840 |
515 | P>L | No |
ClinGen TOPMed |
|
|
CA343411903 rs1558078519 |
525 | D>N | No |
ClinGen Ensembl |
|
|
CA343411952 rs1224197415 |
532 | V>M | No |
ClinGen gnomAD |
|
|
CA1217591 rs752400564 |
535 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1217592 rs755595308 |
537 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs897127594 CA31811562 |
541 | P>L | No |
ClinGen TOPMed |
|
|
VAR_041501 CA31811581 rs55973200 |
543 | V>F | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
CA1217595 rs55973200 |
543 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1217596 rs150835897 |
544 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 545 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA31811588 rs12406460 |
550 | G>R | No |
ClinGen Ensembl |
|
|
rs1647263961 RCV001344180 |
551 | K>E | No |
ClinVar dbSNP |
|
|
rs77232496 CA1217598 |
555 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA343412161 rs1316752094 |
555 | V>M | No |
ClinGen TOPMed |
|
|
rs199786403 CA1217599 |
556 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs748431055 CA1217600 |
557 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1206810975 CA343412196 |
557 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA343412212 rs1571319584 |
558 | F>V | No |
ClinGen Ensembl |
|
|
rs1252290629 CA343412372 |
568 | K>M | No |
ClinGen gnomAD |
|
|
CA343412400 rs1343582326 |
571 | E>* | No |
ClinGen TOPMed |
|
|
rs1343582326 CA343412402 |
571 | E>K | No |
ClinGen TOPMed |
|
|
rs1424734199 CA343412460 |
575 | G>R | No |
ClinGen gnomAD |
|
|
rs1367652616 CA343412479 |
576 | E>A | No |
ClinGen TOPMed |
|
| TCGA novel | 581 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1217627 rs775228000 |
582 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs757836784 CA31812619 |
585 | M>I | No |
ClinGen Ensembl |
|
|
CA343412748 rs1216960225 |
585 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs760469769 CA1217628 |
589 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1313301863 CA343412830 |
590 | D>E | No |
ClinGen gnomAD |
|
|
CA1217629 rs763680731 |
592 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1256586551 CA343412922 |
594 | A>G | No |
ClinGen gnomAD |
|
|
CA343412944 rs1317658591 |
596 | D>V | No |
ClinGen gnomAD |
|
|
CA1217630 rs776324899 |
597 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1266317724 CA343412987 |
600 | N>S | No |
ClinGen TOPMed |
|
|
CA343412986 rs1266317724 |
600 | N>T | No |
ClinGen TOPMed |
|
|
rs920964485 CA31812639 |
602 | P>A | No |
ClinGen Ensembl |
|
|
rs1221368862 CA343413020 |
603 | V>A | No |
ClinGen TOPMed |
|
|
rs372362070 CA1217634 |
611 | R>Q | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1433720646 CA343413127 |
612 | A>V | No |
ClinGen gnomAD |
|
|
CA343413147 rs1571321327 |
615 | N>I | No |
ClinGen Ensembl |
|
|
rs768167895 CA1217635 |
616 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA343413161 rs1421257960 |
617 | N>S | No |
ClinGen gnomAD |
|
|
rs1236282332 CA343413168 |
618 | A>V | No |
ClinGen TOPMed |
|
|
rs753040959 CA1217636 |
619 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs897630893 CA31814584 |
626 | I>T | No |
ClinGen Ensembl |
|
|
rs779010669 CA1217658 |
626 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 627 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel CA343413717 rs1216351050 |
629 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
rs758532950 CA1217660 |
630 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779963287 CA343413735 |
631 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1217661 COSM1335766 rs779963287 COSM1335765 |
631 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1471671366 COSM377017 CA343413733 |
631 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA343413799 rs1385487589 |
635 | P>R | No |
ClinGen gnomAD |
|
|
CA343413825 rs1057519789 |
638 | I>V | No |
ClinGen gnomAD |
|
|
CA1217663 rs768416932 |
639 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs780991379 CA1217664 |
640 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA343413885 rs576570292 |
643 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1217666 rs576570292 |
643 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762535811 CA1217668 |
645 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1255713145 CA343413990 |
647 | D>V | No |
ClinGen Ensembl |
|
|
rs1571324061 CA343414013 |
648 | D>A | No |
ClinGen Ensembl |
|
|
rs1027537214 CA31814670 |
649 | P>L | No |
ClinGen Ensembl |
|
|
CA1217670 rs776104977 |
651 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA1217671 rs761219341 |
654 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA1217673 rs754168055 |
657 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA343414186 rs754168055 |
657 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 658 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1217674 rs762100055 |
663 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1217675 rs765486190 |
665 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA343414469 rs1379193443 |
667 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs750679140 CA1217676 |
667 | S>P | No |
ClinGen ExAC gnomAD |
|
|
COSM349832 rs751660319 CA1217679 |
668 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs754868982 CA31814745 |
668 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780994847 CA1217681 |
669 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA343414535 rs1558081070 |
670 | E>D | No |
ClinGen Ensembl |
|
|
rs769532262 CA1217683 |
670 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748984839 CA1217685 |
671 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1217684 rs777473405 |
671 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs770733296 CA1217686 |
673 | N>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 676 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA343414672 rs773962213 |
677 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343414688 rs1263582839 |
678 | D>A | No |
ClinGen gnomAD |
|
|
rs759124429 CA343414675 |
678 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs759124429 CA1217688 |
678 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM1583678 rs572243397 CA1217690 COSM898794 |
680 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA1217691 rs572243397 |
680 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765562219 CA1217693 |
680 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1217692 rs765562219 |
680 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343414721 rs572243397 |
680 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201701502 CA1217694 |
681 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201701502 CA31814819 |
681 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA343414757 rs1244437003 |
682 | V>F | No |
ClinGen gnomAD |
|
|
rs1031466008 CA31815094 |
685 | T>A | No |
ClinGen Ensembl |
|
|
CA31815096 rs956827605 |
685 | T>I | No |
ClinGen Ensembl |
|
|
CA1217718 rs201609613 |
686 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757179876 CA1217721 |
689 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1217724 rs201861797 |
692 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs201861797 CA1217723 |
692 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA343415170 rs1222604492 |
693 | Q>P | No |
ClinGen gnomAD |
|
|
CA1217725 rs779383435 |
694 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1308053089 CA343415220 |
695 | A>P | No |
ClinGen TOPMed |
|
|
rs746559400 CA1217726 |
697 | G>A | No |
ClinGen ExAC |
|
|
rs139092779 CA1217727 |
699 | K>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773720424 CA1217728 |
700 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA31815166 COSM160368 RCV000593180 rs374326234 |
704 | L>V | breast [Cosmic] | No |
ClinGen cosmic curated ClinVar ESP TOPMed dbSNP gnomAD |
|
CA31815180 COSM126649 COSM1583677 rs1056323839 |
709 | R>* | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. endometrium stomach [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs896311138 CA31815189 |
709 | R>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 711 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1318269557 CA343415471 |
712 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 712 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1217732 rs121964865 |
713 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs1385486342 CA343415546 |
716 | C>S | No |
ClinGen gnomAD |
|
|
CA31815216 rs74627486 |
720 | K>R | No |
ClinGen Ensembl |
|
|
CA343415623 rs1331888792 |
721 | N>H | No |
ClinGen gnomAD |
|
|
rs764117026 CA1217737 |
721 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1217735 rs531373389 |
721 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468834975 CA343415693 |
723 | T>A | No |
ClinGen TOPMed |
|
|
rs771560387 CA1217738 |
724 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs765174181 CA1217739 |
727 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 730 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1217741 rs757948884 |
732 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs779760134 CA1217742 |
733 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA343416014 rs1206578573 |
735 | L>M | No |
ClinGen TOPMed |
|
|
CA31815279 rs928253161 |
736 | Y>* | No |
ClinGen Ensembl |
|
|
CA1217744 rs370379829 |
737 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 738 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs550210469 CA31815293 |
742 | R>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
CA1217745 rs374058699 |
742 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1439165135 CA343416155 |
743 | I>T | No |
ClinGen gnomAD |
|
|
rs1158370896 CA343416192 |
745 | G>D | No |
ClinGen gnomAD |
|
|
rs1364325806 CA343416196 |
746 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 757 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1217751 rs760669535 |
758 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1048910780 CA31815385 |
759 | I>V | No |
ClinGen Ensembl |
|
|
rs780111117 CA1217768 |
766 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1256488929 CA343416969 |
766 | T>R | No |
ClinGen gnomAD |
|
|
rs769024047 CA1217771 |
781 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA343417075 rs1441490871 |
782 | T>A | No |
ClinGen TOPMed |
|
|
rs1433624804 CA343417144 |
791 | Q>R | No |
ClinGen TOPMed |
|
|
CA343417159 TCGA novel rs1571328046 |
794 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs773259518 CA1217774 |
796 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA343417189 rs1421141294 |
798 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 801 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs565955901 CA1217777 |
801 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA31816969 rs767183927 |
804 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1217780 rs752148906 |
805 | F>L | No |
ClinGen ExAC |
|
|
rs1218815846 CA343417244 |
806 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1217781 COSM274754 rs201041695 |
806 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA343417248 rs1407257853 |
807 | D>H | No |
ClinGen gnomAD |
|
|
rs1280326707 CA343417256 |
808 | Q>E | No |
ClinGen TOPMed |
|
|
CA1217782 rs765660823 |
808 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA343417272 rs1361657826 |
810 | R>M | No |
ClinGen gnomAD |
|
|
CA343417487 rs1188900792 |
813 | Y>C | No |
ClinGen TOPMed |
|
|
rs1188900792 CA343417490 |
813 | Y>S | No |
ClinGen TOPMed |
|
|
rs1245458324 CA343417502 |
814 | L>R | No |
ClinGen gnomAD |
|
|
rs1315880380 CA343417527 |
816 | Q>H | No |
ClinGen gnomAD |
|
|
rs1446931986 CA343417523 |
816 | Q>L | No |
ClinGen TOPMed |
|
|
CA343417543 rs1361641225 |
818 | A>T | No |
ClinGen gnomAD |
|
|
rs143080882 CA1217805 |
822 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1050839202 CA31817789 |
822 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA343417599 rs1050839202 |
822 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs140134368 CA1217806 |
824 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1470475739 CA343417683 |
830 | S>G | No |
ClinGen gnomAD |
|
|
CA31817822 rs199869484 |
831 | C>G | No |
ClinGen Ensembl |
|
|
CA1217809 COSM898797 rs147604927 |
836 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1571330087 CA343417802 |
839 | R>C | No |
ClinGen Ensembl |
|
|
CA1217814 rs774333285 |
847 | L>H | No |
ClinGen ExAC TOPMed |
|
|
rs1571330123 CA343417951 |
847 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 849 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1357761882 CA343417984 |
850 | L>F | No |
ClinGen gnomAD |
|
|
rs1377352380 CA343418026 |
852 | Q>H | No |
ClinGen TOPMed |
|
|
CA1217817 rs567134957 |
854 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1335774 COSM1335773 rs771898787 CA1217816 |
854 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA31817858 rs771898787 |
854 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1217819 rs138798285 |
855 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs15941 CA31817866 |
856 | E>R | No |
ClinGen Ensembl |
No associated diseases with Q16832
7 regional properties for Q16832
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Calcineurin-like phosphoesterase domain, ApaH type | 212 - 406 | IPR004843 |
| domain | Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase | 179 - 456 | IPR006186 |
| domain | PPP domain | 113 - 203 | IPR013235 |
| repeat | Tetratricopeptide repeat | 5 - 38 | IPR019734-1 |
| repeat | Tetratricopeptide repeat | 39 - 72 | IPR019734-2 |
| repeat | Tetratricopeptide repeat | 73 - 106 | IPR019734-3 |
| domain | PP5, C-terminal metallophosphatase domain | 152 - 467 | IPR041753 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.3.16 | Phosphoric monoester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| 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. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| collagen binding | Binding to collagen, a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%). |
| protein tyrosine kinase collagen receptor activity | Combining with collagen 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. |
| 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. |
38 GO annotations of biological process
| Name | Definition |
|---|---|
| biomineral tissue development | Formation of hard tissues that consist mainly of inorganic compounds, and also contain a small amounts of organic matrices that are believed to play important roles in their formation. |
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| cellular response to angiotensin | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an angiotensin stimulus. Angiotensin is any of three physiologically active peptides (angiotensin II, III, or IV) processed from angiotensinogen. |
| cellular response to hypoxia | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level. |
| cellular response to transforming growth factor beta stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a transforming growth factor beta stimulus. |
| chondrocyte proliferation | The multiplication or reproduction of chondrocytes by cell division, resulting in the expansion of their population. A chondrocyte is a polymorphic cell that forms cartilage. |
| collagen fibril organization | Any process that determines the size and arrangement of collagen fibrils within an extracellular matrix. |
| collagen-activated tyrosine kinase receptor signaling pathway | The series of molecular signals initiated by collagen binding to its receptor on the surface of a target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| endochondral bone growth | The increase in size or mass of an endochondral bone that contributes to the shaping of the bone. |
| negative regulation of apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. |
| negative regulation of hydrogen peroxide-mediated programmed cell death | Any process that stops, prevents or reduces the frequency, rate or extent of hydrogen peroxide-mediated programmed cell death. |
| negative regulation of kinase activity | Any process that stops, prevents, or reduces the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. |
| negative regulation of necrotic cell death | Any process that decreases the rate, frequency or extent of necrotic cell death. Necrotic cell death is a cell death process that is morphologically characterized by a gain in cell volume (oncosis), swelling of organelles, plasma membrane rupture and subsequent loss of intracellular contents. |
| ossification | The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. |
| peptidyl-tyrosine phosphorylation | The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine. |
| positive regulation of collagen biosynthetic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. |
| positive regulation of DNA-binding transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription. |
| 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 extracellular matrix disassembly | Any process that increases the rate, frequency or extent of extracellular matrix disassembly. Extracellular matrix disassembly is a process that results in the breakdown of the extracellular matrix. |
| positive regulation of fibroblast migration | Any process that increases the rate, frequency or extent of fibroblast cell migration. Fibroblast cell migration is accomplished by extension and retraction of a pseudopodium. |
| positive regulation of fibroblast proliferation | Any process that activates or increases the frequency, rate or extent of multiplication or reproduction of fibroblast cells. |
| positive regulation of G1/S transition of mitotic cell cycle | Any signalling pathway that increases or activates a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the mitotic cell cycle. |
| positive regulation of hepatic stellate cell activation | Any process that activates or increases the frequency, rate or extent of hepatic stellate cell activation. |
| positive regulation of hepatic stellate cell proliferation | Any process that activates or increases the frequency, rate or extent of hepatic stellate cell proliferation. |
| 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 neuron death | Any process that activates or increases the frequency, rate or extent of neuron death. |
| positive regulation of osteoblast differentiation | Any process that activates or increases the frequency, rate or extent of osteoblast differentiation. |
| positive regulation of protein kinase activity | Any process that activates or increases the frequency, rate or extent of protein kinase activity. |
| positive regulation of vascular associated smooth muscle cell migration | Any process that activates or increases the frequency, rate or extent of vascular associated smooth muscle cell migration. |
| positive regulation of vascular associated smooth muscle cell proliferation | Any process that activates or increases the frequency, rate or extent of vascular smooth muscle cell proliferation. |
| positive regulation of wound healing | Any process that increases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury. |
| 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 bone mineralization | Any process that modulates the frequency, rate or extent of bone mineralization. |
| 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 tissue remodeling | Any process that modulates the frequency, rate, or extent of tissue remodeling. |
| response to muscle stretch | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a myofibril being extended beyond its slack length. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| 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. |
48 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5F3X2 | DDR1 | receptor protein-tyrosine kinase | Gallus gallus (Chicken) | SS |
| Q7YR43 | DDR1 | Epithelial discoidin domain-containing receptor 1 | Pan troglodytes (Chimpanzee) | SS |
| 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 |
| 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 |
| 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 |
| Q03146 | Ddr1 | Epithelial discoidin domain-containing receptor 1 | Mus musculus (Mouse) | SS |
| Q62371 | Ddr2 | Discoidin domain-containing receptor 2 | Mus musculus (Mouse) | SS |
| Q63474 | Ddr1 | Epithelial discoidin domain-containing receptor 1 | Rattus norvegicus (Rat) | SS |
| Q95ZV7 | ddr-2 | Discoidin domain-containing receptor tyrosine kinase B | Caenorhabditis elegans | PR |
| E7F3X9 | ddr1 | receptor protein-tyrosine kinase | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAKEALELKN | EANKFLKEGH | IVQAIDLYTK | AIELDSTNAI | LYSNRSLAHL | KSEDYGLAIN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DASKAIECDP | EYAKAYFRRA | TAHIAIFQPK | EAVGDFRKAL | ALAPSDPAAR | KKLRECEQLV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KRIRFQEAIH | NTEPPSPLAN | INIEDMDIPS | DYDGVILEKQ | ITKEFVEDMK | ERFCQGKKLP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LKFAYSILRD | LKELLEKTPS | LIDIPVKGDE | TLVICGDTHG | QYFDLLNIFK | LHGPPSPTNK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YLFNGDFVDR | GSWSTEVAFT | LYAYKLLYPD | AVFINRGNHE | TDDMNKVYGF | EGECRSKYNE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RTFNIFSETF | SLLPLGSLIS | DSYLVVHGGL | FSDDNVTLDQ | LRNIDRFSKK | QPGQSGLMME |
| 370 | 380 | 390 | 400 | 410 | 420 |
| MLWTDPQPAP | GRGPSKRGVG | LQFGPDVSKR | FCEANGLKAV | IRSHEVRDQG | YEVEHDGYCI |
| 430 | 440 | 450 | 460 | 470 | |
| TVFSAPNYCD | STGNLGAVIK | VKEDMELDFH | QFEAVPHPNI | RPMAYANGLL | SGM |