Q02779
SS
Gene name |
MAP3K10 (MLK2, MST) |
Protein name |
Mitogen-activated protein kinase kinase kinase 10 |
Names |
EC 2.7.11.25 , Mixed lineage kinase 2 , Protein kinase MST |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4294 |
EC number |
2.7.11.25: Protein-serine/threonine kinases |
Protein Class |
|
Descriptions
Mixed lineage kinase 3 (MLK3) is a mitogen-activated protein kinase kinase kinase (MAPKKK) that activates the c-Jun N-terminal kinase (JNK) pathway through the dual phosphorylation of mitogen-activated protein kinase kinases 4/7 (MKK4/7). The catalytic domain of MLK3 is flanked by an N-terminal SH3 domain and a centrally located zipper and Cdc42/Rac-interactive binding (CRIB) motif. Zipper-mediated homo-oligomerization is required for full activity of MLK3, proper substrate phosphorylation, and activation of the JNK pathway. MLK3 is autoinhibited through an interaction between its SH3 domain and a proline-containing sequence between the zipper and the CRIB motif. Activated forms of the small GTPases Cdc42 and Rac interact with MLK3 in a CRIB motif-dependent manner to increase the autophosphorylation of MLK3 and substrate phosphorylation activity and to potentiate MLK3-induced activation of JNK. Activated Cdc42 translocates MLK3 to membranes and induces activation loop phosphorylation of MLK3.
Autoinhibitory domains (AIDs)
Target domain |
444-467 (Proline-rich region) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
247-268 (Activation loop from InterPro)
Target domain |
98-366 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
247-268 (Activation loop from InterPro)
Target domain |
98-366 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100
- Du Y et al. (2005) "Cdc42 induces activation loop phosphorylation and membrane targeting of mixed lineage kinase 3", The Journal of biological chemistry, 280, 42984-93
- Zhang H et al. (2001) "Autoinhibition of mixed lineage kinase 3 through its Src homology 3 domain", The Journal of biological chemistry, 276, 45598-603
- Handley ME et al. (2007) "Mixed lineage kinases (MLKs): a role in dendritic cells, inflammation and immunity", International journal of experimental pathology, 88, 111-26
- Kokoszka ME et al. (2018) "Identification of two distinct peptide-binding pockets in the SH3 domain of human mixed-lineage kinase 3", The Journal of biological chemistry, 293, 13553-13565
Autoinhibited structure
Activated structure
2 structures for Q02779
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2RF0 | X-ray | 200 A | A/B/C/D | 13-78 | PDB |
| AF-Q02779-F1 | Predicted | AlphaFoldDB |
806 variants for Q02779
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA9440278 rs777257201 |
6 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405871008 rs1465113569 |
6 | G>R | No |
ClinGen gnomAD |
|
|
CA308373866 rs1031818084 |
7 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA405871038 rs1423624163 |
7 | A>V | No |
ClinGen gnomAD |
|
|
rs762362092 CA9440279 |
9 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765803480 CA9440280 |
10 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA405871103 rs1158601106 |
11 | E>D | No |
ClinGen gnomAD |
|
|
CA405871128 rs1433205482 |
12 | W>* | No |
ClinGen gnomAD |
|
|
CA405871120 rs1389446584 |
12 | W>L | No |
ClinGen gnomAD |
|
|
rs750965657 CA9440281 |
14 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs908334304 CA308373886 |
14 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA405871167 rs1395254967 |
15 | T>A | No |
ClinGen gnomAD |
|
|
CA9440282 rs759098831 |
17 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1336939914 CA405871231 |
18 | G>E | No |
ClinGen gnomAD |
|
|
rs1226481460 CA405871250 |
19 | P>L | No |
ClinGen gnomAD |
|
|
CA9440284 rs377356617 |
20 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1568485388 CA405871332 |
23 | A>S | No |
ClinGen Ensembl |
|
|
CA405871342 rs1191528566 |
23 | A>V | No |
ClinGen TOPMed |
|
|
rs1242846913 CA405871456 |
27 | Y>C | No |
ClinGen TOPMed |
|
|
CA405871541 rs1263304652 |
30 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA405871600 rs1471926088 |
33 | E>A | No |
ClinGen gnomAD |
|
|
rs1402548789 CA405871698 |
38 | R>W | No |
ClinGen gnomAD |
|
|
rs1173972641 CA405871716 |
39 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs757122193 CA9440289 |
39 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405871758 rs1466740385 |
40 | G>S | No |
ClinGen gnomAD |
|
|
CA9440290 rs745925376 |
41 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405871831 rs1357104540 |
43 | V>I | No |
ClinGen gnomAD |
|
|
CA405871835 rs1357104540 |
43 | V>L | No |
ClinGen gnomAD |
|
|
CA308373923 rs865920534 |
44 | Q>* | No |
ClinGen Ensembl |
|
|
rs1179617734 CA405871881 |
44 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA405872005 rs1336411547 |
51 | A>T | No |
ClinGen TOPMed |
|
|
CA405872015 rs1407960964 |
51 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1011033246 CA308373947 |
52 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA405872032 rs1224976286 |
53 | S>P | No |
ClinGen gnomAD |
|
|
rs780108839 CA9440292 |
54 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA9440293 rs747284453 |
56 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1210364480 CA405872075 |
57 | G>S | No |
ClinGen gnomAD |
|
|
rs777097713 CA9440295 |
61 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1471405222 CA405872255 |
65 | S>N | No |
ClinGen gnomAD |
|
|
rs762270234 CA9440296 |
65 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1189613612 CA405872305 |
67 | R>C | No |
ClinGen gnomAD |
|
|
rs770139611 CA405872311 |
67 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770139611 CA9440297 |
67 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405872321 rs773826241 |
68 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9440298 rs773826241 |
68 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9440299 rs758964321 |
69 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs767090699 CA9440300 |
72 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA405872406 rs1427601720 |
72 | P>S | No |
ClinGen gnomAD |
|
|
CA405872433 rs1568485509 |
73 | S>N | No |
ClinGen Ensembl |
|
|
CA405872530 rs1272624833 |
78 | P>A | No |
ClinGen gnomAD |
|
|
CA405872544 rs1234335822 |
79 | G>R | No |
ClinGen gnomAD |
|
|
rs1305207300 CA405872559 |
80 | A>P | No |
ClinGen gnomAD |
|
|
rs1305207300 CA405872556 |
80 | A>S | No |
ClinGen gnomAD |
|
|
CA9440305 rs757137537 |
81 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs374135624 CA9440304 |
81 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750414503 CA9440307 |
82 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9440308 rs758386903 |
84 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780134903 CA9440309 |
85 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9440310 rs747118842 |
86 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA405872636 rs755182157 |
87 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1167797441 CA405872639 |
87 | L>P | No |
ClinGen gnomAD |
|
|
rs755182157 CA9440311 |
87 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs781577113 CA9440312 |
88 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA308374053 rs866788176 |
88 | Q>P | No |
ClinGen gnomAD |
|
|
CA9440314 rs770260517 |
89 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1314952933 CA405872654 |
90 | P>H | No |
ClinGen TOPMed |
|
|
CA308374078 rs539939105 |
91 | Q>H | No |
ClinGen Ensembl |
|
|
CA308374074 rs1047543571 |
91 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA405872659 rs1047543571 |
91 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1271188418 CA405872668 |
92 | E>D | No |
ClinGen gnomAD |
|
|
rs1227192991 CA405872662 |
92 | E>K | No |
ClinGen gnomAD |
|
|
CA405872707 rs1341869847 CA405872709 |
95 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs771361641 CA9440317 |
100 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA9440318 rs774939471 |
101 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA405872797 rs1461631455 |
102 | E>K | No |
ClinGen TOPMed |
|
|
rs1355338995 CA405872837 |
103 | I>M | No |
ClinGen TOPMed |
|
|
CA9440320 rs143046006 |
106 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405872889 rs143046006 |
106 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| VAR_040702 | 107 | G>E | a metastatic melanoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA405872970 rs1189424003 |
108 | G>V | No |
ClinGen gnomAD |
|
|
rs765128661 CA9440324 |
113 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765128661 CA405873091 |
113 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308374103 rs952167899 |
114 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1461889398 CA405873152 |
118 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1461889398 CA405873154 |
118 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA308374110 rs759660870 |
118 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1461889398 CA405873156 |
118 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1433956684 CA405873193 |
120 | E>A | No |
ClinGen gnomAD |
|
|
rs1176440068 CA405873199 |
120 | E>D | No |
ClinGen TOPMed |
|
|
CA405873228 rs1599896262 |
122 | V>G | No |
ClinGen Ensembl |
|
|
rs369104373 CA9440328 |
127 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755165514 CA9440329 |
128 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9440330 rs781558903 |
129 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1266362213 CA405873337 |
131 | P>S | No |
ClinGen gnomAD |
|
|
CA405873347 rs1219008232 |
132 | E>D | No |
ClinGen TOPMed |
|
|
CA9440331 rs748441956 |
135 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA9440332 rs756408658 |
136 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA405873375 rs1568485691 |
137 | V>M | No |
ClinGen Ensembl |
|
|
COSM996592 rs778146858 CA9440333 |
139 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9440334 rs749643961 |
140 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 140 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405873412 rs1599896352 |
142 | V>G | No |
ClinGen Ensembl |
|
|
CA405873409 rs1247326791 |
142 | V>L | No |
ClinGen TOPMed |
|
|
CA405873414 rs199866647 |
143 | C>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199866647 CA9440335 |
143 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9440336 rs774899062 |
144 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs746521099 CA9440337 |
145 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA405873436 rs1158578133 |
146 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1374579230 COSM226387 CA405873524 |
155 | P>L | NS [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1333985215 CA405873520 |
155 | P>S | No |
ClinGen gnomAD |
|
|
rs1300110018 CA405873561 |
158 | I>S | No |
ClinGen TOPMed |
|
|
rs1300110018 CA405873559 |
158 | I>T | No |
ClinGen TOPMed |
|
|
CA405873581 rs1365013514 |
160 | L>F | No |
ClinGen TOPMed |
|
|
CA405873616 rs1287031558 |
163 | A>T | No |
ClinGen gnomAD |
|
|
rs1319597105 CA405873659 |
166 | N>T | No |
ClinGen gnomAD |
|
|
rs36102209 CA405873694 |
168 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9440343 rs36102209 VAR_051639 |
168 | P>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA405873684 rs1198832570 |
168 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA308374193 rs766405261 |
171 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 178 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751612685 CA9440345 |
178 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA405873844 rs1212691976 |
180 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9440346 rs759656796 |
181 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149643657 CA9440347 |
181 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9440349 rs756316378 |
184 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA9440350 rs777859224 |
185 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA405873951 rs1171671367 |
188 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA405873991 rs1375629278 |
189 | R>P | No |
ClinGen gnomAD |
|
|
rs144372418 CA9440351 |
190 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1599896524 CA405874023 |
191 | V>G | No |
ClinGen Ensembl |
|
|
rs1490970779 CA405874055 |
193 | P>A | No |
ClinGen TOPMed |
|
|
CA9440352 rs757688448 CA9440353 |
194 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1309308151 CA405874140 |
197 | V>A | No |
ClinGen gnomAD |
|
|
rs772590575 CA9440355 |
197 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 200 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 202 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1232569669 CA405874275 |
205 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 206 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769431753 CA9440358 |
212 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405874331 rs769431753 |
212 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9440359 rs772795697 |
213 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1272200624 CA405874344 |
214 | A>S | No |
ClinGen gnomAD |
|
|
CA405874355 rs1480300218 |
216 | V>M | No |
ClinGen gnomAD |
|
|
CA9440361 rs373849251 |
217 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1449404097 CA405874370 |
218 | I>T | No |
ClinGen gnomAD |
|
|
rs1395316562 CA405874381 |
220 | H>Y | No |
ClinGen gnomAD |
|
|
CA405874412 rs1455303565 |
224 | K>N | No |
ClinGen gnomAD |
|
|
CA405875837 rs1338691199 |
235 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs901919875 CA308379453 |
236 | N>D | No |
ClinGen Ensembl |
|
|
rs745662251 CA9440380 |
236 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1273315110 CA405875878 |
237 | H>R | No |
ClinGen gnomAD |
|
|
CA9440381 rs148776549 |
238 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA308379478 rs148776549 |
238 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3693294 CA9440383 rs202232339 |
240 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 241 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9440385 rs370149563 |
242 | T>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9440384 rs370149563 |
242 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA308379490 rs868234177 |
245 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 245 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA308379491 rs913992056 |
246 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1303604062 CA405876047 |
250 | G>S | No |
ClinGen TOPMed |
|
|
COSM996600 CA405876084 rs1455727337 |
253 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1316495811 CA405876091 |
254 | E>K | No |
ClinGen gnomAD |
|
|
CA405876126 rs1346087624 |
256 | H>Y | No |
ClinGen gnomAD |
|
|
rs1290466266 CA405876145 |
257 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA405876143 rs1290466266 |
257 | K>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 261 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9440393 rs777094905 |
263 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1442370693 CA405876248 |
264 | A>V | No |
ClinGen gnomAD |
|
|
CA405876255 rs1243925944 |
265 | G>W | No |
ClinGen gnomAD |
|
| TCGA novel | 267 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405876319 rs745642269 |
268 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9440397 rs745642269 |
268 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771805135 CA9440398 |
271 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568487929 CA405876399 |
272 | P>T | No |
ClinGen Ensembl |
|
| TCGA novel | 274 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA308379571 rs968338573 |
274 | V>L | No |
ClinGen Ensembl |
|
|
CA405876491 rs1211976310 |
276 | R>C | No |
ClinGen gnomAD |
|
|
CA9440401 rs368334260 |
276 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA |
|
CA9440402 rs372587323 |
278 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1176751508 CA405876540 |
279 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs267605482 CA308379585 |
279 | L>R | No |
ClinGen Ensembl |
|
|
rs765434274 CA9440404 |
281 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1330997698 CA405876583 |
281 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 282 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1174137580 CA405876632 |
285 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 288 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM189276 CA405878210 rs1568490122 |
290 | G>R | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 293 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9440431 rs767896869 |
298 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs948088861 CA308383737 |
300 | E>D | No |
ClinGen Ensembl |
|
| TCGA novel | 300 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405878282 rs1599907178 |
301 | V>G | No |
ClinGen Ensembl |
|
|
rs1373107865 CA405878288 |
302 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 303 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9440433 COSM87792 rs574172025 |
304 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA405878298 rs574172025 |
304 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs535058788 CA9440434 |
304 | R>H | Variant assessed as Somatic; 0.0001854 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9440435 rs535058788 |
304 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1393936962 CA405878316 |
307 | D>N | No |
ClinGen TOPMed |
|
|
rs1195695117 CA405878323 |
308 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1599907242 CA405878329 |
309 | L>M | No |
ClinGen Ensembl |
|
|
rs751302676 CA9440438 |
310 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs373992417 CA9440440 |
311 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405878351 rs1420224638 |
312 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA405878360 rs1162235745 |
314 | G>S | No |
ClinGen gnomAD |
|
|
rs750540519 CA308383829 |
315 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA405878378 rs1279619309 |
317 | M>V | No |
ClinGen TOPMed |
|
|
CA405878387 rs1211705153 |
318 | N>D | No |
ClinGen TOPMed |
|
|
CA9440443 rs140663696 |
321 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9440445 rs770999932 |
322 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9440446 rs774690844 |
323 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9440448 rs370743069 |
327 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1282436463 CA405878451 |
328 | C>* | No |
ClinGen gnomAD |
|
|
CA405878465 rs1157546105 |
330 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9440450 rs761225315 COSM996607 |
330 | E>K | Variant assessed as Somatic; 9.313e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1242468601 CA405878462 |
330 | E>V | No |
ClinGen gnomAD |
|
|
rs764703640 CA9440451 |
334 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9440452 rs145602628 |
334 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755961486 CA9440477 |
341 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1277484553 CA405878555 |
342 | P>T | No |
ClinGen TOPMed |
|
|
CA9440478 rs763931871 |
344 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1281507782 CA405878569 |
344 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA405878574 rs1347729411 |
345 | H>Y | No |
ClinGen TOPMed |
|
|
rs376121895 COSM439517 CA9440480 |
346 | G>R | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9440481 rs779013255 |
347 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1248272472 CA405878608 |
350 | F>C | No |
ClinGen gnomAD |
|
|
CA9440484 rs780485487 |
351 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9440485 rs780485487 |
351 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405878616 rs1239623555 |
352 | S>G | No |
ClinGen gnomAD |
|
|
rs769185410 CA9440486 |
354 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769185410 CA308384323 |
354 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9440489 rs770231591 |
356 | R>Q | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9440488 rs748636182 |
356 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs773840600 CA9440490 |
358 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA405878666 rs1396337544 |
360 | I>V | No |
ClinGen gnomAD |
|
|
CA9440491 rs759057261 |
361 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222548147 CA405878680 |
362 | Q>E | No |
ClinGen Ensembl |
|
|
rs1050322732 CA308384353 |
362 | Q>H | No |
ClinGen Ensembl |
|
|
rs1376187930 CA405878689 |
363 | S>* | No |
ClinGen TOPMed |
|
| TCGA novel | 364 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9440493 rs568815943 |
364 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9440494 rs148883852 |
364 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1348358878 CA405878718 |
368 | M>V | No |
ClinGen gnomAD |
|
|
CA405878733 rs1235079354 |
370 | L>V | No |
ClinGen gnomAD |
|
|
CA308384355 rs563640107 |
374 | H>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 375 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9440498 rs765099614 |
379 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 385 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1193633859 CA405878849 |
386 | H>R | No |
ClinGen TOPMed |
|
|
CA405878900 rs1473487275 |
389 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs758622258 CA9440500 |
389 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs758622258 CA405878894 |
389 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM1393769 rs1389532844 CA405878964 |
392 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA405878962 rs1163533819 |
392 | R>W | No |
ClinGen gnomAD |
|
|
CA308384385 rs760300986 |
394 | K>M | No |
ClinGen Ensembl |
|
|
rs750430245 CA9440517 |
399 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376827274 CA9440518 |
400 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9440519 rs367847300 |
401 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1353418800 CA405879837 |
401 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1259753682 CA405879882 |
404 | E>D | No |
ClinGen gnomAD |
|
|
rs1270546520 CA405879887 |
405 | L>V | No |
ClinGen TOPMed |
|
|
rs781279884 CA9440522 |
407 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs755159756 COSM996609 CA9440521 |
407 | R>W | endometrium Variant assessed as Somatic; 5.352e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1458041343 CA405879921 |
408 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA308384782 rs895664482 |
410 | Q>R | No |
ClinGen TOPMed |
|
|
CA9440526 rs749841833 |
411 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA9440527 rs771449066 |
413 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1417358526 CA405880026 |
416 | E>K | No |
ClinGen gnomAD |
|
|
CA9440528 rs779474272 |
418 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs746537447 CA9440529 |
420 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1364541736 CA405880073 |
420 | R>W | No |
ClinGen gnomAD |
|
|
rs952735749 CA308384845 |
421 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1302960418 CA405880091 |
422 | R>Q | No |
ClinGen gnomAD |
|
|
rs776214953 COSM996611 CA9440531 |
422 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA405880105 rs1221522549 |
423 | E>G | No |
ClinGen gnomAD |
|
|
rs1380746038 CA405880101 |
423 | E>K | No |
ClinGen gnomAD |
|
|
rs761641528 CA9440532 |
424 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA405880136 rs1187683177 |
425 | E>A | No |
ClinGen gnomAD |
|
|
CA405880163 rs1367330471 |
427 | A>G | No |
ClinGen gnomAD |
|
|
rs769530363 CA9440533 |
428 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA405880185 rs1242853286 |
429 | R>C | No |
ClinGen gnomAD |
|
|
CA405880216 rs1278613251 |
431 | M>T | No |
ClinGen gnomAD |
|
|
CA405880212 rs1168727320 |
431 | M>V | No |
ClinGen TOPMed |
|
|
rs1347852085 CA405880233 |
432 | D>G | No |
ClinGen gnomAD |
|
|
rs1424848404 CA405880252 |
434 | V>M | No |
ClinGen TOPMed |
|
|
COSM439518 CA308384864 rs916960455 |
436 | R>W | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs762940502 CA9440535 |
439 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9440536 rs766421744 |
442 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA405880409 rs1182530703 |
446 | S>I | No |
ClinGen TOPMed |
|
|
CA405880438 rs1251602710 |
448 | E>G | No |
ClinGen gnomAD |
|
|
CA9440538 rs759588424 |
451 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1484168862 CA405880473 |
451 | R>W | No |
ClinGen TOPMed |
|
|
rs767775266 CA9440539 |
453 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs904167606 CA308384893 |
453 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 453 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs192728745 CA9440540 |
455 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs371667509 CA9440541 |
455 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405880516 rs371667509 |
455 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764392464 CA9440542 |
456 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA405880568 rs1424874930 |
459 | F>L | No |
ClinGen gnomAD |
|
|
rs534097924 CA9440543 COSM3692764 |
461 | R>C | Variant assessed as Somatic; 4.689e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA9440545 rs757704923 |
461 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9440544 rs757704923 |
461 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs746524729 CA9440546 |
463 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746524729 CA9440547 |
463 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9440548 rs555573641 COSM1393770 |
463 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs749106630 CA9440552 |
468 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA308384964 rs892680139 |
468 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs202229714 CA9440556 |
471 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 471 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759628815 CA9440555 |
471 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 475 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1007992552 CA308384984 |
478 | S>C | No |
ClinGen Ensembl |
|
|
CA405881649 rs1217758125 |
481 | E>K | No |
ClinGen gnomAD |
|
|
rs1249366703 CA405881686 |
483 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs760867660 CA9440577 |
490 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs906175891 CA308387099 |
491 | T>I | No |
ClinGen Ensembl |
|
|
CA405881826 rs1430392363 |
495 | R>G | No |
ClinGen gnomAD |
|
|
rs143690177 CA9440580 |
495 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA405881828 rs1430392363 |
495 | R>W | No |
ClinGen gnomAD |
|
|
CA405881849 rs1160254085 |
497 | G>R | No |
ClinGen TOPMed |
|
|
CA405881870 rs1458883198 |
498 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs147051761 CA9440583 |
499 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147051761 CA9440584 |
499 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755750018 CA9440586 |
501 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs777533137 CA9440587 |
503 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9440589 rs756990388 |
504 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756990388 CA405881934 |
504 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9440590 rs756990388 |
504 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405881944 rs771891153 |
505 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9440592 rs771891153 |
505 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9440593 rs780106430 |
505 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405881981 rs1261982253 |
508 | S>N | No |
ClinGen TOPMed |
|
|
CA9440595 rs768774804 |
509 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA405882004 rs1599912728 |
510 | I>T | No |
ClinGen Ensembl |
|
|
rs141826833 CA308387226 |
511 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9440596 rs776717829 |
512 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs201602273 CA308387236 |
514 | R>M | No |
ClinGen Ensembl |
|
|
CA9440597 rs761986165 |
516 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405882073 rs1261986128 |
517 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9440598 rs371759263 |
518 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1326922509 CA405882664 |
519 | T>I | No |
ClinGen gnomAD |
|
|
rs1335451422 COSM1190042 CA405882672 |
520 | P>T | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA405882687 rs374566110 |
521 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9440612 rs374566110 |
521 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9440614 rs768613781 |
524 | G>D | No |
ClinGen ExAC |
|
|
CA405882752 rs1255342569 |
526 | S>G | No |
ClinGen gnomAD |
|
|
CA9440615 rs781186671 |
528 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA9440616 rs150700695 |
531 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9440617 rs769890934 |
532 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1457071541 CA405882894 |
537 | T>I | No |
ClinGen gnomAD |
|
|
rs138936945 CA308391112 |
537 | T>P | No |
ClinGen ESP |
|
|
CA405882897 rs1457071541 |
537 | T>R | No |
ClinGen gnomAD |
|
|
CA405882922 rs1178898850 |
539 | S>N | No |
ClinGen gnomAD |
|
|
CA9440618 rs773546234 |
539 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA9440619 rs763193956 COSM3422823 |
540 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs577404853 CA9440620 |
540 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9440623 rs768143257 |
541 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA405882947 rs1166270072 |
541 | G>V | No |
ClinGen gnomAD |
|
|
CA405882957 rs1568494180 |
542 | G>E | No |
ClinGen Ensembl |
|
|
rs199739175 CA9440624 |
543 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA405882982 rs1466165195 |
545 | K>E | No |
ClinGen gnomAD |
|
|
CA405882980 rs1466165195 |
545 | K>Q | No |
ClinGen gnomAD |
|
|
rs761482915 CA9440625 |
547 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 548 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458756531 CA405883039 |
549 | L>R | No |
ClinGen TOPMed |
|
|
rs1240548499 CA405883048 |
550 | V>A | No |
ClinGen TOPMed |
|
|
rs376246139 CA9440626 |
551 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1247466557 CA405883058 |
552 | G>S | No |
ClinGen TOPMed |
|
|
rs994613955 CA308391192 |
552 | G>V | No |
ClinGen Ensembl |
|
|
CA9440628 rs758010359 |
554 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1026126084 CA308391196 |
557 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs766160419 CA9440629 |
557 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs370630199 CA9440631 |
558 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9440634 rs756255094 |
565 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748219350 CA9440633 |
565 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9440635 rs777832541 |
567 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA405883158 rs777832541 |
567 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs149414474 CA9440637 |
569 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs749475788 CA9440636 |
569 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9440638 rs774789927 |
570 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1172898550 CA405883181 |
571 | G>E | No |
ClinGen gnomAD |
|
|
rs1457572913 CA405883187 |
572 | G>E | No |
ClinGen gnomAD |
|
|
CA308391257 rs146363391 |
574 | E>G | No |
ClinGen ESP TOPMed |
|
|
rs146363391 CA405883201 |
574 | E>V | No |
ClinGen ESP TOPMed |
|
|
CA405883224 rs1258613362 |
576 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA308391401 rs751294833 |
576 | L>P | No |
ClinGen Ensembl |
|
|
CA9440657 rs779334929 |
578 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs772614252 CA405883248 |
580 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9440659 rs772614252 |
580 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9440658 rs746205104 |
580 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1357294830 CA405883272 |
584 | K>Q | No |
ClinGen gnomAD |
|
|
rs1051251098 CA308391470 |
586 | W>C | No |
ClinGen TOPMed |
|
|
CA405883327 rs1302909857 |
591 | P>L | No |
ClinGen gnomAD |
|
|
CA405883332 rs1378701191 |
592 | N>S | No |
ClinGen TOPMed |
|
|
rs1444076804 CA405883344 |
594 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 594 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 596 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA308391492 rs889961470 |
596 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs560357013 CA9440661 |
597 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769051793 CA9440662 |
598 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA308391515 rs936846785 |
599 | H>N | No |
ClinGen TOPMed |
|
|
CA9440663 rs772723135 |
599 | H>R | No |
ClinGen ExAC |
|
|
rs762431180 CA9440664 |
600 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1479676578 CA405883387 |
601 | P>L | No |
ClinGen gnomAD |
|
|
CA9440666 rs774028501 |
601 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs527608473 CA9440669 |
603 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA405883406 rs1432500228 |
604 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1423052420 CA405883402 |
604 | P>S | No |
ClinGen gnomAD |
|
|
rs1176203274 CA405883415 |
606 | F>L | No |
ClinGen gnomAD |
|
|
rs1129156 CA405883421 |
606 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9440672 rs753940276 |
607 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA9440673 rs753940276 |
607 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs779256948 CA9440674 |
608 | S>G | No |
ClinGen ExAC |
|
|
CA9440675 rs750626322 |
608 | S>R | No |
ClinGen ExAC |
|
|
CA9440676 rs758726856 |
609 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs747351192 CA405883437 |
610 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA9440678 rs747351192 |
610 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA308391623 rs145959088 |
610 | N>I | No |
ClinGen ESP gnomAD |
|
|
CA308391619 rs145959088 |
610 | N>S | No |
ClinGen ESP gnomAD |
|
|
CA405883452 rs1367567009 |
612 | M>L | No |
ClinGen gnomAD |
|
|
CA405883459 rs1220346995 |
613 | E>K | No |
ClinGen gnomAD |
|
|
rs755342804 CA9440696 CA308391863 |
615 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359245796 CA405883494 |
616 | A>P | No |
ClinGen gnomAD |
|
|
CA9440698 rs748551085 |
616 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1342472974 CA405883518 |
619 | E>D | No |
ClinGen gnomAD |
|
|
rs13343617 CA308391928 |
619 | E>G | No |
ClinGen Ensembl |
|
|
CA405883514 rs1281670357 |
619 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 620 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1023755963 CA308391935 |
620 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs745393957 CA9440701 |
621 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA405883541 rs563622305 |
623 | S>I | No |
ClinGen gnomAD |
|
|
CA308391943 rs563622305 |
623 | S>N | No |
ClinGen gnomAD |
|
|
rs1228729806 CA405883547 |
624 | S>N | No |
ClinGen gnomAD |
|
|
CA405883544 rs1357313779 |
624 | S>R | No |
ClinGen gnomAD |
|
|
CA405883552 rs1351183568 |
625 | V>M | No |
ClinGen gnomAD |
|
|
rs577824910 CA9440703 |
626 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs199802354 CA9440704 |
627 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9440705 rs768287551 |
628 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA9440706 rs768287551 |
628 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1568494715 CA405883576 |
629 | P>R | No |
ClinGen Ensembl |
|
|
rs1179742452 CA405883574 |
629 | P>S | No |
ClinGen gnomAD |
|
|
CA405883583 rs1379838996 |
630 | Y>C | No |
ClinGen gnomAD |
|
|
CA405883582 rs1379838996 |
630 | Y>S | No |
ClinGen gnomAD |
|
|
rs1236598808 CA405883587 |
631 | S>P | No |
ClinGen gnomAD |
|
|
CA405883592 rs1599918052 |
632 | T>P | No |
ClinGen Ensembl |
|
|
rs1310735841 CA405883603 |
633 | P>L | No |
ClinGen TOPMed |
|
|
CA405883599 rs1353998610 |
633 | P>S | No |
ClinGen TOPMed |
|
|
CA308391949 rs900678496 |
635 | Y>S | No |
ClinGen TOPMed |
|
|
CA9440709 rs773416271 |
636 | L>F | No |
ClinGen ExAC gnomAD |
|
|
COSM1393773 CA405883636 rs1362936194 |
639 | P>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA405883654 rs1419281316 |
641 | P>L | No |
ClinGen TOPMed |
|
|
rs755246036 CA9440713 |
642 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9440714 rs767730944 |
643 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 644 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9440715 rs753060999 |
645 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA405883706 rs1309970528 |
646 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1309970528 CA405883703 |
646 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA405883702 rs1239075939 |
646 | P>S | No |
ClinGen gnomAD |
|
|
CA9440718 CA405883707 rs745377365 |
647 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745377365 CA405883709 |
647 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9440719 rs200291216 |
648 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9440720 rs779638919 |
648 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9440722 rs768360753 |
649 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs746603239 CA9440721 |
649 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA405883735 rs1439479457 |
650 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9440724 rs748016295 |
651 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405883745 rs748016295 |
651 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200389834 CA9440723 |
651 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773326474 CA9440726 |
654 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs773326474 CA405883789 |
654 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1329564579 CA405883797 |
655 | T>K | No |
ClinGen gnomAD |
|
|
CA405883799 rs1329564579 |
655 | T>M | No |
ClinGen gnomAD |
|
|
CA405883795 rs1301144744 |
655 | T>S | No |
ClinGen TOPMed |
|
|
rs766317027 CA9440728 |
656 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766317027 CA405883809 |
656 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231011085 CA405883821 |
658 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1274132302 CA405883829 |
658 | A>V | No |
ClinGen gnomAD |
|
|
CA9440730 rs531356848 |
659 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA405883834 rs910999650 |
659 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA308392072 rs910999650 |
659 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs753046200 CA9440732 |
660 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA405883855 rs1450194208 |
661 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 661 | A>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9440734 rs568974171 |
661 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1198793078 CA405883860 |
662 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 662 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA308392100 rs1043430078 |
663 | W>C | No |
ClinGen TOPMed |
|
|
rs1478057174 CA405883884 |
664 | G>V | No |
ClinGen TOPMed |
|
|
rs925463461 CA308392103 |
667 | A>V | No |
ClinGen TOPMed |
|
|
CA405883921 rs1482739963 |
668 | R>P | No |
ClinGen TOPMed |
|
|
rs1238082876 CA405883919 |
668 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs935462851 CA308392105 |
669 | R>W | No |
ClinGen TOPMed |
|
|
CA308392108 rs1052743270 |
671 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
CA308392111 rs896723723 |
672 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs754294326 CA9440735 |
680 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754294326 CA405884034 |
680 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1045490235 CA308392128 |
681 | L>V | No |
ClinGen TOPMed |
|
|
CA308392131 rs905163343 |
684 | A>T | No |
ClinGen TOPMed |
|
|
rs1352675268 CA405884092 |
687 | L>M | No |
ClinGen TOPMed |
|
|
rs757814549 CA9440736 |
689 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405884126 rs1384811960 |
690 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA405884117 rs1398390317 |
690 | D>N | No |
ClinGen gnomAD |
|
|
rs1415471891 CA405884128 |
691 | V>M | No |
ClinGen gnomAD |
|
|
CA405884145 rs1256430755 |
692 | A>V | No |
ClinGen TOPMed |
|
|
CA405884147 rs1331610125 |
693 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 694 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405884168 rs1479406513 |
694 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 695 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1275735249 CA405884175 |
695 | R>H | No |
ClinGen gnomAD |
|
|
rs1252642447 CA405884193 |
697 | A>D | No |
ClinGen gnomAD |
|
|
CA405884189 rs1218895724 |
697 | A>T | No |
ClinGen gnomAD |
|
|
CA405884206 rs1209610602 |
698 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA308392144 rs993992689 |
698 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1167129970 CA405884212 |
699 | G>C | No |
ClinGen Ensembl |
|
|
rs1025587901 CA405884214 |
699 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA308392148 rs1025587901 |
699 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs955454967 CA308392150 |
701 | E>K | No |
ClinGen TOPMed |
|
|
rs1191645795 CA405884243 |
702 | Q>* | No |
ClinGen gnomAD |
|
|
rs1447357184 CA405884263 |
704 | R>C | No |
ClinGen TOPMed |
|
|
CA405884312 rs1478158502 |
708 | G>D | No |
ClinGen gnomAD |
|
|
CA405884307 rs1457280325 |
708 | G>S | No |
ClinGen TOPMed |
|
|
rs1456262756 CA405884850 |
714 | A>T | No |
ClinGen gnomAD |
|
|
rs746544827 CA9440738 |
716 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs910895614 CA308392158 |
716 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1413862776 CA405884870 |
717 | F>C | No |
ClinGen gnomAD |
|
|
rs1208415755 CA405884877 |
718 | P>L | No |
ClinGen TOPMed |
|
|
CA308392159 rs963649198 |
718 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1488386512 CA405884891 |
721 | L>F | No |
ClinGen TOPMed |
|
|
CA308392161 rs925031657 |
725 | A>G | No |
ClinGen TOPMed |
|
|
CA405884924 rs1272678689 |
726 | R>C | No |
ClinGen gnomAD |
|
|
rs935536478 CA308392166 |
726 | R>H | No |
ClinGen TOPMed |
|
|
CA9440741 rs539565456 |
727 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 730 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405884966 rs1212770451 |
730 | R>H | No |
ClinGen gnomAD |
|
|
CA9440742 rs769765190 |
731 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405884972 rs769765190 |
731 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 732 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405884979 rs1361983796 |
732 | E>K | No |
ClinGen gnomAD |
|
|
rs377653522 CA405884992 |
733 | D>N | No |
ClinGen gnomAD |
|
|
CA405884996 rs1391241042 |
733 | D>V | No |
ClinGen TOPMed |
|
|
rs377653522 CA308392167 |
733 | D>Y | No |
ClinGen gnomAD |
|
|
rs551881274 CA405885004 |
734 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs551881274 CA9440743 |
734 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 735 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9440745 rs770902476 |
736 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA9440744 rs749194049 |
736 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA405885035 rs1254408627 |
737 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA405885034 rs1254408627 |
737 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1426265149 CA405885080 |
742 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs759718380 CA9440747 |
742 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868090133 CA308392181 |
743 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA405885087 rs868090133 |
743 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs867101221 CA308392182 |
744 | A>S | No |
ClinGen Ensembl |
|
|
CA405885093 rs1359818436 |
744 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA405885103 rs1268429501 |
745 | T>S | No |
ClinGen TOPMed |
|
|
rs1290091696 CA405885108 |
746 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA405885129 rs1312922323 |
748 | S>P | No |
ClinGen gnomAD |
|
|
CA405885149 rs761005261 |
750 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA9440750 rs761005261 |
750 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA405885178 rs1218103535 |
753 | S>F | No |
ClinGen gnomAD |
|
|
CA9440754 rs762171182 CA308392203 |
754 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA405885200 rs1482945529 |
755 | C>* | No |
ClinGen gnomAD |
|
|
CA405885232 rs1045286005 |
758 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1045286005 CA308392217 |
758 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA405885237 rs1413610278 |
759 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA405885241 rs1310742857 |
759 | R>L | No |
ClinGen gnomAD |
|
|
CA405885261 rs1342027125 |
762 | L>P | No |
ClinGen gnomAD |
|
|
CA405885271 rs780965991 |
763 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780965991 CA9440757 |
763 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405885269 rs780965991 |
763 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405885274 rs1419568025 |
764 | S>P | No |
ClinGen gnomAD |
|
|
CA9440758 rs752343968 |
767 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 768 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866442784 CA308392235 |
769 | A>D | No |
ClinGen Ensembl |
|
|
rs755866907 CA405885340 |
770 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755866907 CA9440759 |
770 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405885343 rs1336982719 |
770 | A>V | No |
ClinGen gnomAD |
|
|
CA405885354 rs1407844631 |
771 | P>L | No |
ClinGen gnomAD |
|
|
CA405885352 rs1407844631 |
771 | P>R | No |
ClinGen gnomAD |
|
|
rs201388560 CA9440761 |
772 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1612260 rs1465925635 CA405885356 |
772 | A>T | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA405885364 rs1226010589 |
773 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs770762847 CA9440762 |
773 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1233976202 CA405885372 |
774 | P>H | No |
ClinGen gnomAD |
|
|
CA9440764 rs778978424 |
777 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405885399 rs1480807411 |
779 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1568495433 CA405885404 |
780 | P>T | No |
ClinGen Ensembl |
|
|
rs1474298417 CA405885417 |
782 | A>P | No |
ClinGen gnomAD |
|
|
CA308392291 rs994040728 |
783 | P>L | No |
ClinGen TOPMed |
|
|
rs994040728 CA405885426 |
783 | P>R | No |
ClinGen TOPMed |
|
|
CA405885431 rs1568495489 |
784 | T>I | No |
ClinGen Ensembl |
|
|
CA405885427 rs1176509739 |
784 | T>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 785 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772189080 CA9440768 |
785 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1612261 CA9440769 rs555782368 |
786 | T>M | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA405885439 rs1169468355 |
786 | T>P | No |
ClinGen gnomAD |
|
|
rs1292295127 CA405885446 |
787 | P>S | No |
ClinGen gnomAD |
|
|
rs1405678374 CA405885452 |
788 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs760819313 CA405885450 |
788 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760819313 CA9440770 |
788 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405678374 CA405885453 |
788 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA405885457 rs1316100930 |
789 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA405885464 rs1258888451 |
790 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1307860857 CA405885466 |
790 | S>T | No |
ClinGen gnomAD |
|
|
CA405885471 rs1244973678 |
791 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA405885470 rs1244973678 |
791 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1599919476 CA405885477 |
792 | N>H | No |
ClinGen Ensembl |
|
|
CA405885481 rs1199569116 |
792 | N>K | No |
ClinGen gnomAD |
|
|
rs538403826 CA308392316 |
792 | N>T | No |
ClinGen 1000Genomes |
|
|
rs750984604 CA9440775 |
793 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405885488 rs1443123375 |
794 | L>M | No |
ClinGen TOPMed |
|
|
rs1599919512 CA405885491 |
794 | L>P | No |
ClinGen Ensembl |
|
|
rs763388485 CA9440776 |
795 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405885494 rs763388485 |
795 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599919537 CA405885509 |
797 | L>P | No |
ClinGen Ensembl |
|
|
rs1599919549 CA405885515 |
798 | E>G | No |
ClinGen Ensembl |
|
|
CA405885523 rs1163096007 |
799 | L>P | No |
ClinGen gnomAD |
|
|
CA308392325 rs1008571725 |
800 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1599919581 CA405885562 |
804 | K>N | No |
ClinGen Ensembl |
|
|
rs752263955 CA9440778 |
805 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1018151991 CA308392336 |
806 | P>S | No |
ClinGen TOPMed |
|
|
rs1018151991 CA405885570 |
806 | P>T | No |
ClinGen TOPMed |
|
|
rs867370321 CA405885576 |
807 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA405885575 rs867370321 |
807 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA308392337 rs867370321 |
807 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1338533135 CA405885600 |
811 | T>A | No |
ClinGen gnomAD |
|
|
CA9440780 rs777629125 |
813 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753573209 CA9440781 |
814 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375737560 CA9440782 |
815 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405885632 rs1223163115 |
816 | T>K | No |
ClinGen gnomAD |
|
|
rs930558659 CA308392352 |
817 | A>T | No |
ClinGen Ensembl |
|
|
CA9440785 rs758336298 |
820 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA9440784 rs745770153 |
820 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405885657 rs758336298 |
820 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs370764537 CA9440786 |
821 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9440787 rs185662948 |
823 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9440788 rs768858989 |
823 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA405885671 rs185662948 |
823 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1359177551 CA405885691 |
826 | R>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 826 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1419235028 CA405885696 |
827 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1347221571 CA405885702 |
828 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA405885704 rs1347221571 |
828 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA405885716 rs1283771076 |
830 | S>L | No |
ClinGen gnomAD |
|
|
CA405885723 rs3746005 |
831 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA405885728 rs1351403589 |
832 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9440793 rs763491728 |
832 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1351403589 CA405885729 |
832 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA405885726 rs763491728 |
832 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA9440795 rs775129430 |
833 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA308392416 rs775129430 |
833 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA308392417 rs775129430 |
833 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA405885736 rs1242068065 |
834 | L>P | No |
ClinGen gnomAD |
|
|
CA405885738 rs1462096845 |
835 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA308392421 rs756882516 |
836 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9440799 rs756882516 |
836 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410291514 CA405885752 |
837 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA405885751 rs1410291514 |
837 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9440800 rs765016024 |
837 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA308392439 rs545108027 |
838 | G>E | No |
ClinGen 1000Genomes |
|
|
CA308392451 rs967306506 |
839 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1407109756 CA405885761 |
839 | P>S | No |
ClinGen gnomAD |
|
|
CA405885759 rs1407109756 |
839 | P>T | No |
ClinGen gnomAD |
|
|
rs1280008152 CA405885776 |
841 | E>D | No |
ClinGen gnomAD |
|
|
CA308392460 rs560232581 |
841 | E>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1238271164 CA405885772 |
841 | E>K | No |
ClinGen gnomAD |
|
|
rs1352217644 CA405885782 |
842 | P>L | No |
ClinGen gnomAD |
|
|
CA405885783 rs1216960276 |
843 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA405885786 rs1477020332 |
843 | A>V | No |
ClinGen TOPMed |
|
|
CA308392506 rs571940429 |
847 | P>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs142049014 CA308392913 |
849 | P>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9440821 rs766279761 |
850 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9440820 rs766279761 |
850 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9440822 rs149852844 |
850 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149852844 CA9440823 |
850 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1168256886 CA405885851 |
852 | L>R | No |
ClinGen gnomAD |
|
|
rs1403568873 CA405885864 |
854 | D>E | No |
ClinGen gnomAD |
|
|
CA405885879 rs1345615635 |
856 | P>L | No |
ClinGen gnomAD |
|
|
CA9440825 rs201475171 |
857 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9440826 rs201475171 |
857 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM78046 CA9440827 rs368709344 |
857 | R>H | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs368709344 CA9440828 |
857 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1228678233 CA405885892 |
859 | P>L | No |
ClinGen gnomAD |
|
|
rs1005006952 CA308392948 |
860 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA405885893 rs199712099 |
860 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9440830 rs199712099 |
860 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA405885909 rs772470380 |
862 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405885908 rs772470380 |
862 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9440832 rs772470380 |
862 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9440833 rs199800639 |
863 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1599921011 CA405885921 |
864 | L>P | No |
ClinGen Ensembl |
|
|
rs1401707691 CA405885927 |
865 | F>C | No |
ClinGen gnomAD |
|
|
CA405885922 rs1195547755 |
865 | F>I | No |
ClinGen gnomAD |
|
|
rs1568496403 CA405885933 |
866 | P>R | No |
ClinGen Ensembl |
|
|
CA9440836 rs772897455 |
867 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs762613307 CA9440837 |
867 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs766118004 CA9440838 |
868 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9440839 rs201319794 |
868 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA405885943 rs201319794 |
868 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA405885942 rs201319794 |
868 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759464912 CA9440840 |
869 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9440841 rs200620669 |
869 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA405885946 rs200620669 |
869 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756190259 CA405885949 |
870 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756190259 CA9440843 |
870 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9440842 rs752821013 |
870 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339082876 CA405885953 |
871 | P>S | No |
ClinGen gnomAD |
|
|
rs1316418771 CA405885964 |
873 | E>Q | No |
ClinGen gnomAD |
|
|
rs778036298 CA9440844 |
874 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA405885971 rs1599921075 |
874 | F>V | No |
ClinGen Ensembl |
|
|
rs754066669 CA9440845 |
876 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1260247942 CA405885985 |
876 | G>R | No |
ClinGen gnomAD |
|
|
rs201362143 CA9440846 |
877 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779353440 CA9440847 |
877 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9440849 rs182074568 |
878 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs545638012 CA9440850 |
879 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs545638012 CA405885998 |
879 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs567645712 CA9440851 |
880 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1599921111 CA405886003 |
880 | T>P | No |
ClinGen Ensembl |
|
|
rs1599921122 CA405886011 |
881 | L>P | No |
ClinGen Ensembl |
|
|
rs772737754 CA9440853 |
882 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1260336778 CA405886027 |
884 | A>P | No |
ClinGen TOPMed |
|
|
CA308393006 rs372273027 |
885 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA9440854 rs762522233 |
885 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 886 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA308393034 rs974837568 |
887 | P>S | No |
ClinGen TOPMed |
|
|
rs1337762959 CA405886050 |
888 | R>Q | Variant assessed as Somatic; 4.864e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA405886049 rs1333936673 |
888 | R>W | No |
ClinGen gnomAD |
|
|
rs550490560 CA9440856 |
889 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA405886059 rs1317601703 |
890 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 890 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9440859 rs775341802 |
891 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9440861 rs764231586 |
892 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs538813597 CA9440862 |
893 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA405886078 rs1462440579 |
893 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1430177654 CA405886085 |
894 | P>L | No |
ClinGen TOPMed |
|
|
rs554360101 CA308393059 |
894 | P>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs757496454 CA9440863 |
895 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs369326839 CA9440864 |
895 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405886098 rs1599921214 |
897 | D>H | No |
ClinGen Ensembl |
|
|
CA405886106 rs1426814755 |
898 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1568496618 CA405886109 |
898 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA308393073 rs866687711 |
900 | K>T | No |
ClinGen Ensembl |
|
|
rs750783878 CA9440865 |
901 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9440867 rs780486690 |
903 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs758737804 CA9440866 |
903 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs755510311 CA9440869 |
905 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140392273 CA9440873 |
906 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140392273 CA9440872 |
906 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405886155 rs1281419468 |
906 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA9440874 rs372650081 |
907 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA308393101 rs868345226 |
908 | L>V | No |
ClinGen gnomAD |
|
|
CA405886174 rs1202164626 |
910 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9440876 rs775388464 |
911 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA405886188 rs1178835552 |
912 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA405886204 rs1266175096 |
914 | S>R | No |
ClinGen gnomAD |
|
|
rs1479792449 CA405886207 |
915 | R>K | No |
ClinGen gnomAD |
|
|
rs776846148 CA405886213 |
916 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776846148 CA9440879 |
916 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753446623 CA308393111 |
917 | D>G | No |
ClinGen Ensembl |
|
|
rs1408633369 CA405886217 |
917 | D>Y | No |
ClinGen gnomAD |
|
|
CA405886224 rs1204781885 |
918 | T>P | No |
ClinGen TOPMed |
|
|
rs1170162569 CA405886235 |
919 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA405886238 rs1464007900 |
920 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA405886249 rs1301786697 |
921 | S>I | No |
ClinGen gnomAD |
|
|
rs1301786697 CA405886247 |
921 | S>N | No |
ClinGen gnomAD |
|
|
CA405886251 rs1365038332 |
921 | S>R | No |
ClinGen gnomAD |
|
|
rs1405624643 CA405886253 |
922 | P>A | No |
ClinGen gnomAD |
|
|
rs1173306337 CA405886257 |
922 | P>L | No |
ClinGen gnomAD |
|
|
rs765532189 CA9440881 |
923 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA405886264 rs575623715 |
924 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9440883 rs575623715 |
924 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA308393152 rs899474772 |
925 | P>H | No |
ClinGen Ensembl |
|
|
CA405886271 rs1294617817 |
925 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 926 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405886287 rs200643469 |
927 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9440885 rs200643469 |
927 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1289426823 CA405886297 |
928 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs755460900 CA9440886 |
929 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222572791 CA405886322 |
930 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 932 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9440887 rs781752185 |
932 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 933 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs543062542 CA405886340 |
933 | D>N | No |
ClinGen 1000Genomes TOPMed |
|
|
CA308393186 rs543062542 |
933 | D>Y | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1430607632 CA405886352 |
934 | M>L | No |
ClinGen gnomAD |
|
|
rs1430607632 CA405886353 |
934 | M>V | No |
ClinGen gnomAD |
|
|
rs565505820 CA405886379 |
935 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA405886367 rs1162292907 |
935 | D>N | No |
ClinGen gnomAD |
|
|
CA308393207 rs377679591 |
936 | M>T | No |
ClinGen ESP TOPMed |
|
|
CA308393209 rs1005446525 |
939 | Q>L | No |
ClinGen Ensembl |
|
|
CA9440889 rs756811598 |
940 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs778419707 CA9440890 |
941 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 943 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 945 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1289605338 CA405886483 |
945 | V>M | No |
ClinGen gnomAD |
|
|
CA308393227 rs1026502521 |
946 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA405886523 rs527871668 |
948 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
CA405886537 rs1246127291 |
950 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1246127291 CA405886536 |
950 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs771762747 CA9440892 |
951 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA9440895 rs768682579 |
952 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA9440894 rs370964982 |
952 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1182108622 CA405886588 |
954 | H>Q | No |
ClinGen gnomAD |
No associated diseases with Q02779
18 regional properties for Q02779
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | VWFC domain | 24 - 92 | IPR001007-1 |
| domain | VWFC domain | 503 - 572 | IPR001007-2 |
| domain | VWFC domain | 1924 - 1997 | IPR001007-3 |
| domain | VWFC domain | 2098 - 2164 | IPR001007-4 |
| domain | VWFC domain | 2249 - 2314 | IPR001007-5 |
| domain | von Willebrand factor, type D domain | 51 - 234 | IPR001846-1 |
| domain | von Willebrand factor, type D domain | 530 - 706 | IPR001846-2 |
| domain | von Willebrand factor, type D domain | 1607 - 1793 | IPR001846-3 |
| domain | von Willebrand factor, type A | 945 - 1128 | IPR002035-1 |
| domain | von Willebrand factor, type A | 1165 - 1338 | IPR002035-2 |
| domain | von Willebrand factor, type A | 1358 - 1540 | IPR002035-3 |
| domain | Trypsin Inhibitor-like, cysteine rich domain | 326 - 381 | IPR002919-1 |
| domain | Trypsin Inhibitor-like, cysteine rich domain | 819 - 870 | IPR002919-2 |
| domain | Cystine knot, C-terminal | 2393 - 2481 | IPR006207 |
| domain | VWF/SSPO/Zonadhesin-like, cysteine-rich domain | 251 - 323 | IPR014853-1 |
| domain | VWF/SSPO/Zonadhesin-like, cysteine-rich domain | 727 - 801 | IPR014853-2 |
| domain | VWF/SSPO/Zonadhesin-like, cysteine-rich domain | 1801 - 1869 | IPR014853-3 |
| domain | von Willebrand factor, VWA N-terminal domain | 872 - 946 | IPR032361 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.25 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| bHLH transcription factor binding | Binding to a basic Helix-Loop-Helix (bHLH) superfamily of transcription factors, important regulatory components in transcriptional networks of many developmental pathways. |
| JUN kinase kinase kinase activity | Catalysis of the reaction |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction |
| protein serine kinase activity | Catalysis of the reactions |
| protein serine/threonine kinase activity | Catalysis of the reactions |
| transcription corepressor activity | A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| JNK cascade | An intracellular protein kinase cascade containing at least a JNK (a MAPK), a JNKK (a MAPKK) and a JUN3K (a MAP3K). The cascade can also contain an additional tier |
| negative regulation of DNA-binding transcription factor activity | Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
| peptidyl-threonine phosphorylation | The phosphorylation of peptidyl-threonine to form peptidyl-O-phospho-L-threonine. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of JNK cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the JNK cascade. |
| positive regulation of JUN kinase activity | Any process that activates or increases the frequency, rate or extent of JUN kinase activity. |
| 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). |
| 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. |
| smoothened signaling pathway | The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened. |
41 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A2VDU3 | MAP3K7 | Mitogen-activated protein kinase kinase kinase 7 | Bos taurus (Bovine) | SS |
| Q4TVR5 | DSTYK | Dual serine/threonine and tyrosine protein kinase | Bos taurus (Bovine) | PR |
| Q3SZJ2 | RIPK2 | Receptor-interacting serine/threonine-protein kinase 2 | Bos taurus (Bovine) | PR |
| Q6XUX0 | DSTYK | Dual serine/threonine and tyrosine protein kinase | Gallus gallus (Chicken) | PR |
| P83104 | Takl1 | Putative mitogen-activated protein kinase kinase kinase 7-like | Drosophila melanogaster (Fruit fly) | PR |
| Q95UN8 | slpr | Mitogen-activated protein kinase kinase kinase | Drosophila melanogaster (Fruit fly) | EV |
| P00540 | MOS | Proto-oncogene serine/threonine-protein kinase mos | Homo sapiens (Human) | PR |
| Q5TCX8 | MAP3K21 | Mitogen-activated protein kinase kinase kinase 21 | Homo sapiens (Human) | PR |
| Q6XUX3 | DSTYK | Dual serine/threonine and tyrosine protein kinase | Homo sapiens (Human) | PR |
| O43318 | MAP3K7 | Mitogen-activated protein kinase kinase kinase 7 | Homo sapiens (Human) | SS |
| Q9NYL2 | MAP3K20 | Mitogen-activated protein kinase kinase kinase 20 | Homo sapiens (Human) | PR |
| Q38SD2 | LRRK1 | Leucine-rich repeat serine/threonine-protein kinase 1 | Homo sapiens (Human) | EV |
| P15056 | BRAF | Serine/threonine-protein kinase B-raf | Homo sapiens (Human) | EV |
| O43353 | RIPK2 | Receptor-interacting serine/threonine-protein kinase 2 | Homo sapiens (Human) | PR |
| P80192 | MAP3K9 | Mitogen-activated protein kinase kinase kinase 9 | Homo sapiens (Human) | SS |
| Q16584 | MAP3K11 | Mitogen-activated protein kinase kinase kinase 11 | Homo sapiens (Human) | EV |
| Q13418 | ILK | Integrin-linked protein kinase | Homo sapiens (Human) | PR |
| P04049 | RAF1 | RAF proto-oncogene serine/threonine-protein kinase | Homo sapiens (Human) | EV |
| P10398 | ARAF | Serine/threonine-protein kinase A-Raf | Homo sapiens (Human) | PR |
| Q8NB16 | MLKL | Mixed lineage kinase domain-like protein | Homo sapiens (Human) | EV |
| P58801 | Ripk2 | Receptor-interacting serine/threonine-protein kinase 2 | Mus musculus (Mouse) | PR |
| Q62073 | Map3k7 | Mitogen-activated protein kinase kinase kinase 7 | Mus musculus (Mouse) | EV |
| Q9D2Y4 | Mlkl | Mixed lineage kinase domain-like protein | Mus musculus (Mouse) | SS |
| Q9ESL4 | Map3k20 | Mitogen-activated protein kinase kinase kinase 20 | Mus musculus (Mouse) | PR |
| P00536 | Mos | Proto-oncogene serine/threonine-protein kinase mos | Mus musculus (Mouse) | PR |
| Q3U1V8 | Map3k9 | Mitogen-activated protein kinase kinase kinase 9 | Mus musculus (Mouse) | SS |
| Q66L42 | Map3k10 | Mitogen-activated protein kinase kinase kinase 10 | Mus musculus (Mouse) | SS |
| Q80XI6 | Map3k11 | Mitogen-activated protein kinase kinase kinase 11 | Mus musculus (Mouse) | PR |
| Q8VDG6 | Map3k21 | Mitogen-activated protein kinase kinase kinase 21 | Mus musculus (Mouse) | PR |
| P0C8E4 | Map3k7 | Mitogen-activated protein kinase kinase kinase 7 | Rattus norvegicus (Rat) | SS |
| P00539 | Mos | Proto-oncogene serine/threonine-protein kinase mos | Rattus norvegicus (Rat) | PR |
| D3ZG83 | Map3k10 | Mitogen-activated protein kinase kinase kinase 10 | Rattus norvegicus (Rat) | SS |
| Q66HA1 | Map3k11 | Mitogen-activated protein kinase kinase kinase 11 | Rattus norvegicus (Rat) | PR |
| Q9TZM3 | lrk-1 | Leucine-rich repeat serine/threonine-protein kinase 1 | Caenorhabditis elegans | SS |
| Q9FPR3 | EDR1 | Serine/threonine-protein kinase EDR1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q2MHE4 | HT1 | Serine/threonine/tyrosine-protein kinase HT1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O22558 | STY8 | Serine/threonine-protein kinase STY8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8RWL6 | STY17 | Serine/threonine-protein kinase STY17 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| F4JTP5 | STY46 | Serine/threonine-protein kinase STY46 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q05609 | CTR1 | Serine/threonine-protein kinase CTR1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q67E00 | dstyk | Dual serine/threonine and tyrosine protein kinase | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEEEEGAVAK | EWGTTPAGPV | WTAVFDYEAA | GDEELTLRRG | DRVQVLSQDC | AVSGDEGWWT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GQLPSGRVGV | FPSNYVAPGA | PAAPAGLQLP | QEIPFHELQL | EEIIGVGGFG | KVYRALWRGE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EVAVKAARLD | PEKDPAVTAE | QVCQEARLFG | ALQHPNIIAL | RGACLNPPHL | CLVMEYARGG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ALSRVLAGRR | VPPHVLVNWA | VQVARGMNYL | HNDAPVPIIH | RDLKSINILI | LEAIENHNLA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DTVLKITDFG | LAREWHKTTK | MSAAGTYAWM | APEVIRLSLF | SKSSDVWSFG | VLLWELLTGE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VPYREIDALA | VAYGVAMNKL | TLPIPSTCPE | PFARLLEECW | DPDPHGRPDF | GSILKRLEVI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EQSALFQMPL | ESFHSLQEDW | KLEIQHMFDD | LRTKEKELRS | REEELLRAAQ | EQRFQEEQLR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RREQELAERE | MDIVERELHL | LMCQLSQEKP | RVRKRKGNFK | RSRLLKLREG | GSHISLPSGF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EHKITVQASP | TLDKRKGSDG | ASPPASPSII | PRLRAIRLTP | VDCGGSSSGS | SSGGSGTWSR |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GGPPKKEELV | GGKKKGRTWG | PSSTLQKERV | GGEERLKGLG | EGSKQWSSSA | PNLGKSPKHT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PIAPGFASLN | EMEEFAEAED | GGSSVPPSPY | STPSYLSVPL | PAEPSPGARA | PWEPTPSAPP |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ARWGHGARRR | CDLALLGCAT | LLGAVGLGAD | VAEARAADGE | EQRRWLDGLF | FPRAGRFPRG |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LSPPARPHGR | REDVGPGLGL | APSATLVSLS | SVSDCNSTRS | LLRSDSDEAA | PAAPSPPPSP |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PAPTPTPSPS | TNPLVDLELE | SFKKDPRQSL | TPTHVTAACA | VSRGHRRTPS | DGALGQRGPP |
| 850 | 860 | 870 | 880 | 890 | 900 |
| EPAGHGPGPR | DLLDFPRLPD | PQALFPARRR | PPEFPGRPTT | LTFAPRPRPA | ASRPRLDPWK |
| 910 | 920 | 930 | 940 | 950 | |
| LVSFGRTLTI | SPPSRPDTPE | SPGPPSVQPT | LLDMDMEGQN | QDSTVPLCGA | HGSH |