Q8NEM2
Gene name |
SHCBP1 |
Protein name |
SHC SH2 domain-binding protein 1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79801 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8NEM2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8NEM2-F1 | Predicted | AlphaFoldDB |
515 variants for Q8NEM2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA396090380 rs1218092183 |
2 | A>S | No |
ClinGen gnomAD |
|
|
rs767753286 CA8036546 |
3 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs759988033 CA396090368 |
4 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8036545 rs759988033 |
4 | G>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774802723 CA396090361 |
5 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774802723 CA8036544 |
5 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774802723 CA396090360 |
5 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567457394 CA396090357 |
6 | L>Q | No |
ClinGen Ensembl |
|
|
rs1298508955 CA396090359 |
6 | L>V | No |
ClinGen gnomAD |
|
|
CA396090349 rs1226469453 |
7 | T>M | No |
ClinGen gnomAD |
|
|
CA396090350 rs1226469453 |
7 | T>R | No |
ClinGen gnomAD |
|
|
CA396090339 rs1320223317 |
9 | G>D | No |
ClinGen gnomAD |
|
|
rs1262847028 CA720990767 |
9 | G>R | No |
ClinGen TOPMed |
|
|
rs1320223317 CA396090337 |
9 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 10 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8036540 rs776119732 |
10 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396090336 rs1363863229 |
10 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA280431902 rs776119732 |
10 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8036539 rs768274909 |
11 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8036537 rs144267302 |
13 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1475298663 CA396090320 |
13 | A>T | No |
ClinGen gnomAD |
|
|
CA8036536 rs144267302 |
13 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396090315 rs1472538193 |
14 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA8036533 rs553357867 |
14 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA280431828 rs140408371 |
15 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8036532 rs140408371 |
15 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA396090304 rs1222619858 CA396090302 |
16 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs995656608 CA280431805 |
16 | M>K | No |
ClinGen TOPMed |
|
|
CA8036530 rs147549440 CA8036531 |
16 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8036529 rs147549440 |
16 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1452938789 CA396090301 |
17 | A>T | No |
ClinGen gnomAD |
|
|
CA8036528 rs752832808 |
17 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755251087 CA8036526 |
18 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767814496 CA8036527 |
18 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA396090292 rs1221655735 |
19 | E>K | No |
ClinGen gnomAD |
|
|
CA396090279 rs1253822791 |
20 | R>L | No |
ClinGen gnomAD |
|
|
CA280431788 rs17856883 CA8036523 |
21 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8036525 rs6598679 |
21 | M>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8036524 VAR_051354 rs6598679 |
21 | M>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8036522 rs773761609 |
23 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8036521 rs763486870 |
24 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435669827 CA396090250 |
25 | V>A | No |
ClinGen TOPMed |
|
|
rs1397701103 CA396090252 |
25 | V>L | No |
ClinGen gnomAD |
|
|
CA396090242 rs1483750245 |
26 | E>D | No |
ClinGen TOPMed |
|
|
rs1468651839 CA396090245 |
26 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA280431772 rs1008703403 |
26 | E>K | No |
ClinGen TOPMed |
|
|
CA8036519 rs377365467 |
27 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA8036518 rs377365467 |
27 | Q>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1199428685 CA396090239 |
27 | Q>R | No |
ClinGen gnomAD |
|
|
CA8036517 rs745599323 |
28 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA280431760 rs111694311 |
28 | E>G | No |
ClinGen Ensembl |
|
|
CA396090235 rs745599323 |
28 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA396090234 rs745599323 |
28 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8036516 rs774284933 |
29 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs770908710 CA8036515 |
32 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396090205 rs1259809039 |
33 | E>G | No |
ClinGen gnomAD |
|
|
CA280430245 rs78630461 |
35 | G>V | No |
ClinGen Ensembl |
|
|
rs79790675 CA280430239 |
36 | L>F | No |
ClinGen Ensembl |
|
|
CA280430236 rs980745275 |
37 | F>L | No |
ClinGen TOPMed |
|
|
rs781332172 CA8036488 |
41 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs896409342 CA280430235 |
41 | D>V | No |
ClinGen Ensembl |
|
| TCGA novel | 43 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs992649575 CA280430211 |
44 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs758719965 CA280430209 |
46 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8036485 rs780292870 |
46 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs780292870 CA8036486 |
46 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA8036484 rs758719965 |
46 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8036483 rs750821378 |
49 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381765742 CA396090077 |
49 | R>H | No |
ClinGen gnomAD |
|
|
CA396090078 rs750821378 |
49 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779228165 CA8036482 |
52 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA8036481 RCV000894223 rs76534624 |
54 | S>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8036479 rs139554699 |
60 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8036480 rs11545690 VAR_051355 |
60 | M>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1462446634 CA396089991 |
61 | P>L | No |
ClinGen TOPMed |
|
|
CA8036477 rs751217741 |
64 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA280430195 rs201984083 |
64 | K>R | No |
ClinGen 1000Genomes |
|
|
CA8036476 rs568809430 |
65 | T>S | No |
ClinGen 1000Genomes ExAC |
|
|
rs762780620 CA8036474 |
66 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146004470 CA8036473 |
67 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1488694147 CA396089946 |
68 | P>L | No |
ClinGen gnomAD |
|
|
rs1288424865 CA396089945 |
69 | E>K | No |
ClinGen gnomAD |
|
|
rs1596692591 CA396089929 |
71 | F>I | No |
ClinGen Ensembl |
|
|
CA8036472 rs769546343 |
72 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1184650492 CA396089917 |
72 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8036471 rs761792845 |
75 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1432943783 CA396089892 |
76 | L>F | No |
ClinGen TOPMed |
|
|
CA280430168 rs945146766 |
79 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA396089870 rs945146766 |
79 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8036468 rs747121194 |
81 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772293350 CA8036467 |
81 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8036466 rs772293350 |
81 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396089848 rs1423549063 |
83 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 83 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396089837 rs1365840102 |
84 | A>G | No |
ClinGen gnomAD |
|
|
rs1253203446 CA396089841 |
84 | A>T | No |
ClinGen TOPMed |
|
|
CA8036464 rs200068397 |
85 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1426536565 CA396089824 |
86 | Q>R | No |
ClinGen gnomAD |
|
|
CA8036463 rs189131703 |
88 | Y>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8036462 rs201168675 |
89 | I>V | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 90 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201101866 CA8036444 |
91 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201101866 CA8036443 |
91 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1467075279 CA396089774 |
92 | D>A | No |
ClinGen gnomAD |
|
|
rs772205443 CA8036441 |
92 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs772205443 CA8036442 |
92 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1291101706 CA396089765 |
93 | C>Y | No |
ClinGen gnomAD |
|
|
rs746080661 CA8036440 |
94 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396089753 rs1240437635 |
95 | A>P | No |
ClinGen TOPMed |
|
|
CA280429564 rs992911878 |
97 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs369047561 CA8036438 |
99 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749639882 CA8036437 |
99 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8036436 rs778369901 |
105 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA8036434 rs748735561 |
106 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs761201254 CA280429551 |
112 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1324869949 CA396089627 |
114 | G>R | No |
ClinGen TOPMed |
|
|
CA396089615 rs1324168184 |
115 | W>* | No |
ClinGen TOPMed |
|
|
rs372268527 CA8036432 |
116 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3361767 CA8036433 rs779702179 |
116 | R>W | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1045374791 CA280429530 |
117 | A>V | No |
ClinGen TOPMed |
|
|
rs1012470827 CA280429501 |
120 | H>Y | No |
ClinGen TOPMed |
|
|
rs1335642118 CA396089575 |
122 | N>D | No |
ClinGen TOPMed |
|
|
rs764826820 CA8036429 |
122 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA396089546 rs757026436 |
126 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757026436 CA8036427 |
126 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446475231 CA396089541 |
127 | L>V | No |
ClinGen TOPMed |
|
|
rs1448725426 CA396089537 |
128 | V>I | No |
ClinGen gnomAD |
|
|
CA8036415 rs770344569 |
130 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396089350 rs770344569 |
130 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396089351 rs770344569 |
130 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781773628 CA8036413 |
132 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA8036412 rs368228161 |
133 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8036411 rs142000194 |
137 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1304588863 CA396089280 |
140 | A>V | No |
ClinGen gnomAD |
|
|
rs1327299410 CA396089265 |
143 | R>K | No |
ClinGen gnomAD |
|
|
rs756862260 CA8036408 |
147 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA396089240 rs756862260 |
147 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs763862767 CA8036406 |
149 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA396089227 rs763862767 |
149 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1258878832 CA396089202 |
152 | S>C | No |
ClinGen gnomAD |
|
|
rs1202797558 CA396089200 |
153 | Q>K | No |
ClinGen gnomAD |
|
|
rs1485293574 CA396089183 |
155 | S>N | No |
ClinGen gnomAD |
|
|
CA280428445 rs923258497 |
156 | T>A | No |
ClinGen Ensembl |
|
|
CA8036405 rs755951635 |
158 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 160 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8036403 rs767379401 |
162 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA8036402 rs759604344 |
162 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA396089135 rs767379401 |
162 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA8036401 rs774301993 |
164 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396089106 rs1380602301 |
166 | L>F | No |
ClinGen gnomAD |
|
|
rs1041021873 CA280428399 |
167 | D>Y | No |
ClinGen Ensembl |
|
|
rs942573950 CA280428388 |
168 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs928144028 CA280428385 |
170 | E>Q | No |
ClinGen TOPMed |
|
|
CA280428375 rs866698459 |
171 | H>N | No |
ClinGen gnomAD |
|
|
CA8036398 rs773621044 |
172 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8036399 rs763257855 |
172 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA396089057 rs1363980445 |
174 | P>A | No |
ClinGen gnomAD |
|
|
rs1363980445 CA396089056 |
174 | P>S | No |
ClinGen gnomAD |
|
|
CA280428356 rs113749182 |
177 | E>G | No |
ClinGen Ensembl |
|
|
rs1214960418 CA396089026 |
179 | W>R | No |
ClinGen Ensembl |
|
|
CA396089014 rs1596690645 |
180 | V>G | No |
ClinGen Ensembl |
|
|
CA280428353 rs146106817 |
180 | V>M | No |
ClinGen ESP |
|
|
rs1596690637 CA396089008 |
181 | V>G | No |
ClinGen Ensembl |
|
|
rs1477196441 CA396088992 |
183 | D>E | No |
ClinGen gnomAD |
|
|
rs777226287 CA8036395 |
185 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs966837603 CA280428312 |
189 | D>E | No |
ClinGen TOPMed |
|
|
CA8036393 rs745308205 |
191 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs952511681 CA280428287 |
195 | I>M | No |
ClinGen gnomAD |
|
|
CA8036392 rs367816466 |
195 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA280428272 rs867427829 |
199 | R>I | No |
ClinGen Ensembl |
|
|
CA8036381 rs750630198 |
202 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA396088838 rs34559393 |
204 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1438905489 CA396088836 |
205 | I>V | No |
ClinGen TOPMed |
|
|
CA396088824 rs1274461198 |
206 | W>* | No |
ClinGen gnomAD |
|
|
rs771517898 CA280423636 |
208 | S>N | No |
ClinGen Ensembl |
|
|
CA396088790 rs1338828662 |
211 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 212 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8036379 rs143807959 |
215 | D>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs776862098 CA8036378 |
216 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA396088742 rs1260534560 |
217 | Y>D | No |
ClinGen TOPMed |
|
|
CA396088743 rs1260534560 |
217 | Y>H | No |
ClinGen TOPMed |
|
|
CA8036376 rs761071900 |
218 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA8036374 rs376538138 |
221 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8036373 rs376538138 |
221 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776113874 CA8036375 |
221 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396088702 rs1200594001 |
223 | C>R | No |
ClinGen TOPMed |
|
|
rs769443227 CA8036371 |
223 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA280423547 rs747865264 |
226 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8036370 rs747865264 |
226 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM970757 rs780839550 CA8036369 |
227 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1458095374 CA396088663 |
229 | R>I | No |
ClinGen gnomAD |
|
|
rs1406415052 CA396088635 |
231 | H>R | No |
ClinGen TOPMed |
|
|
CA396088627 rs1472385994 |
232 | Y>C | No |
ClinGen gnomAD |
|
|
CA396088630 rs1397251298 |
232 | Y>H | No |
ClinGen TOPMed |
|
|
rs762124697 CA8036360 |
234 | I>T | No |
ClinGen ExAC |
|
|
CA8036359 rs749245057 |
236 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370810038 CA280421191 |
237 | D>E | No |
ClinGen ESP TOPMed |
|
|
CA8036358 rs764345009 |
238 | R>* | Variant assessed as Somatic; 4.626e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8036357 rs761142529 |
238 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8036356 rs775811918 |
244 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222710736 CA396088549 |
245 | V>I | No |
ClinGen TOPMed |
|
|
rs768024463 CA8036355 |
246 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1263961580 CA396088536 |
247 | Y>H | No |
ClinGen TOPMed |
|
|
CA396088529 rs1379008591 |
248 | H>N | No |
ClinGen gnomAD |
|
|
CA396088527 rs1379008591 |
248 | H>Y | No |
ClinGen gnomAD |
|
|
CA280421176 rs777927592 |
249 | N>H | No |
ClinGen Ensembl |
|
|
CA8036353 rs772703007 |
249 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769349334 CA8036352 |
250 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8036351 rs747730910 |
254 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8036350 rs776383201 |
256 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA396088473 rs1297179923 |
256 | E>K | No |
ClinGen gnomAD |
|
|
rs1161372409 CA396088448 |
259 | R>M | No |
ClinGen gnomAD |
|
| TCGA novel | 260 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396088421 rs1423088335 |
263 | N>D | No |
ClinGen gnomAD |
|
|
CA396088417 rs1414439853 |
263 | N>I | No |
ClinGen gnomAD |
|
|
CA396088406 rs1438840438 |
265 | R>T | No |
ClinGen TOPMed |
|
|
CA396088376 rs1183567100 |
269 | S>* | No |
ClinGen gnomAD |
|
|
CA280421152 rs961348785 |
270 | N>D | No |
ClinGen TOPMed |
|
|
CA396088354 rs1473804082 |
272 | N>S | No |
ClinGen gnomAD |
|
|
CA396088346 rs1267462296 |
273 | S>C | No |
ClinGen TOPMed |
|
|
rs1221524765 CA396088330 |
276 | E>K | No |
ClinGen TOPMed |
|
|
rs1396748438 CA396088314 |
278 | E>K | No |
ClinGen gnomAD |
|
|
rs1021341991 CA280421092 |
281 | S>P | No |
ClinGen Ensembl |
|
|
rs373701887 CA8036345 |
282 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1219814107 CA396088277 |
283 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 285 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1291182534 CA396088256 |
286 | L>* | No |
ClinGen gnomAD |
|
|
rs1339131551 CA396088231 |
289 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs138864591 CA8036343 |
290 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1341969352 CA396088214 |
292 | M>V | No |
ClinGen gnomAD |
|
|
CA8036341 rs201494848 |
293 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA396088205 rs201494848 |
293 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764408135 CA280421027 |
294 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs764408135 CA8036340 |
294 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA396088186 rs1199996970 |
296 | K>Q | No |
ClinGen gnomAD |
|
|
rs756375959 CA396088177 |
297 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs756375959 CA8036339 |
297 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1030134493 CA280421009 |
298 | K>R | No |
ClinGen TOPMed |
|
|
rs1030134493 CA396088168 |
298 | K>T | No |
ClinGen TOPMed |
|
|
rs753109291 CA8036338 |
301 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753109291 CA396088150 |
301 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396088143 rs1481360533 |
302 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA396088136 rs1251024992 |
303 | E>A | No |
ClinGen TOPMed |
|
| TCGA novel | 304 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767934484 CA8036337 |
306 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA8036336 rs760020240 |
307 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA396088071 rs1238069557 |
311 | F>I | No |
ClinGen gnomAD |
|
|
rs868729387 CA280420858 |
312 | G>D | No |
ClinGen Ensembl |
|
|
CA8036317 rs752918531 |
313 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 314 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396088036 rs1359270924 |
315 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA396088006 rs1567449509 |
320 | Q>K | No |
ClinGen Ensembl |
|
|
CA396088002 rs1253701419 |
320 | Q>R | No |
ClinGen gnomAD |
|
|
CA396087998 rs1231898743 |
321 | A>T | No |
ClinGen gnomAD |
|
|
CA396087973 rs1223905190 |
324 | V>G | No |
ClinGen TOPMed |
|
|
CA8036316 rs767842642 COSM1377940 |
325 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs375185810 CA8036315 |
327 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766889570 COSM241600 CA8036313 |
328 | G>S | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1051810165 CA280420833 |
331 | I>L | No |
ClinGen TOPMed |
|
|
rs199914265 CA280420828 |
332 | T>I | No |
ClinGen Ensembl |
|
|
CA396087917 rs1449729753 |
333 | H>L | No |
ClinGen TOPMed |
|
|
rs201568619 CA8036311 |
337 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396087865 rs1448842558 |
341 | A>S | No |
ClinGen gnomAD |
|
|
CA396087857 rs1337905276 |
342 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA396087853 rs1400022590 |
343 | L>I | No |
ClinGen gnomAD |
|
|
rs200589685 CA8036308 |
345 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763581676 CA8036309 |
345 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 347 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8036306 rs771963584 |
348 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3420993 rs199982006 CA8036305 |
349 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA |
|
rs538774624 CA8036304 |
351 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA396087807 rs1254704041 |
351 | R>S | No |
ClinGen gnomAD |
|
|
CA396087806 rs1383010372 |
352 | L>I | No |
ClinGen Ensembl |
|
|
CA8036303 rs770906199 |
353 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA396087799 rs1199375603 |
353 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs376727147 CA8036302 |
354 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8036301 rs369036517 |
354 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396087783 rs1309666717 |
355 | E>A | No |
ClinGen gnomAD |
|
|
CA8036300 rs199576557 |
355 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA280420706 rs969691104 |
356 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA280420703 rs1022670170 |
357 | G>S | No |
ClinGen TOPMed |
|
|
CA396087771 COSM3667854 rs1338611903 |
357 | G>V | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1311999344 CA396087752 |
360 | E>* | No |
ClinGen gnomAD |
|
|
CA8036299 rs748335934 |
364 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA8036280 rs769874421 |
366 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1194937551 CA396087688 |
367 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1244043761 CA396087686 |
367 | S>N | No |
ClinGen gnomAD |
|
|
rs781330593 CA8036278 |
367 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA396087672 rs1478266017 |
369 | P>S | No |
ClinGen TOPMed |
|
|
rs1417686529 CA396087665 |
370 | L>S | No |
ClinGen TOPMed |
|
|
rs768875072 CA8036277 |
372 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs147585883 CA8036276 |
373 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396087635 rs1169329116 |
375 | A>T | No |
ClinGen TOPMed |
|
|
CA396087620 rs1256146680 |
377 | F>L | No |
ClinGen gnomAD |
|
|
CA396087615 rs758741836 |
377 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8036273 rs750913417 |
378 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA280420369 rs771133626 |
380 | D>E | No |
ClinGen Ensembl |
|
|
rs1350807479 CA396087593 |
381 | T>A | No |
ClinGen TOPMed |
|
|
CA8036272 rs779320266 |
382 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 383 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA280420349 rs1055421432 |
385 | C>* | No |
ClinGen Ensembl |
|
|
CA280420331 rs140069841 |
387 | G>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA396087553 rs140069841 |
387 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs752268440 CA8036270 |
388 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs752268440 CA8036271 |
388 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA280420325 rs749439950 |
390 | V>A | No |
ClinGen Ensembl |
|
|
CA8036268 rs754663698 |
390 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1329956842 CA396087534 |
391 | V>I | No |
ClinGen gnomAD |
|
|
rs1329956842 CA396087533 |
391 | V>L | No |
ClinGen gnomAD |
|
|
CA396087524 rs1464625670 |
392 | H>R | No |
ClinGen gnomAD |
|
|
rs1220132313 CA396087517 |
393 | G>D | No |
ClinGen TOPMed |
|
|
rs1344169223 CA396087518 |
393 | G>S | No |
ClinGen TOPMed |
|
|
CA396087513 rs1353226629 |
394 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA280420324 rs968834473 |
396 | S>T | No |
ClinGen TOPMed |
|
|
rs766166114 CA8036266 |
396 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA396087463 rs1169174640 |
401 | I>M | No |
ClinGen gnomAD |
|
|
rs762684042 CA8036265 |
402 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA280418226 rs1015227821 |
407 | G>C | No |
ClinGen gnomAD |
|
| TCGA novel | 408 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1239891587 CA396087398 |
409 | P>L | No |
ClinGen gnomAD |
|
|
rs761730635 CA8036243 |
410 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1461560245 CA396087396 |
410 | D>H | No |
ClinGen TOPMed |
|
|
CA280418209 rs907424955 |
411 | D>G | No |
ClinGen gnomAD |
|
|
CA280418213 rs1003144200 |
411 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA8036242 rs776601536 |
412 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334272718 CA396087378 |
413 | V>M | No |
ClinGen gnomAD |
|
|
rs1436155579 CA396087370 |
414 | I>L | No |
ClinGen gnomAD |
|
|
rs1429707771 CA396087357 |
416 | K>Q | No |
ClinGen TOPMed |
|
|
CA8036240 CA396087344 rs200482042 |
417 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8036239 rs373336645 |
418 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 419 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1420142921 CA396087325 |
420 | G>V | No |
ClinGen gnomAD |
|
|
CA280418145 rs376160881 COSM471731 |
421 | D>N | kidney [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
rs1230109797 CA396087305 |
423 | F>L | No |
ClinGen TOPMed |
|
|
CA8036237 rs746177302 |
424 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774564825 CA8036236 |
428 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA396087275 rs1236933520 |
428 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs771471109 CA8036235 |
429 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8036234 rs749780017 |
430 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA396087266 rs749780017 |
430 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1317941657 CA396087257 |
431 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1286930287 CA396087253 |
431 | I>M | No |
ClinGen gnomAD |
|
|
CA8036233 rs778453932 |
433 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746511129 CA396087235 |
434 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA8036231 rs746511129 |
434 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1337949733 CA396087231 |
435 | G>D | No |
ClinGen gnomAD |
|
|
CA280418109 rs151148850 |
435 | G>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1596678971 CA396087210 |
438 | F>S | No |
ClinGen Ensembl |
|
|
CA396087199 rs1400355591 |
440 | Q>K | No |
ClinGen gnomAD |
|
|
rs757985863 CA8036229 |
441 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA396087178 rs1475210675 |
442 | D>E | No |
ClinGen TOPMed |
|
|
CA8036228 rs142201278 |
442 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778659019 CA8036227 |
443 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1165731573 CA396087171 |
444 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs373935568 CA8036226 |
445 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8036225 rs753737111 |
446 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA396087124 rs1450877803 |
449 | I>T | No |
ClinGen TOPMed |
|
|
rs759691750 CA8036200 |
450 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8036199 rs751782063 |
452 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8036198 rs766719161 |
452 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 452 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8036197 rs763340134 |
454 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280414798 rs926930869 |
456 | T>A | No |
ClinGen gnomAD |
|
|
rs773704460 CA8036196 |
456 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770254582 CA8036195 |
457 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202030254 CA280414776 |
458 | E>K | No |
ClinGen Ensembl |
|
|
rs1567445493 CA396087069 |
459 | N>D | No |
ClinGen Ensembl |
|
|
rs762208281 CA8036194 |
460 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356492731 CA396087055 |
461 | V>M | No |
ClinGen gnomAD |
|
|
CA8036191 rs745407076 |
468 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8036190 rs778481033 |
469 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 471 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8036189 rs535052871 |
472 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1177268431 CA396086985 |
472 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA396086971 rs1253862222 |
474 | S>L | No |
ClinGen gnomAD |
|
|
rs777521264 CA8036187 |
477 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA396086948 rs1596675875 |
478 | L>V | No |
ClinGen Ensembl |
|
|
CA280414735 rs369921811 |
480 | K>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs372325367 CA280414720 |
480 | K>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA280414734 rs369921811 |
480 | K>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1009622540 CA396086927 |
481 | N>S | No |
ClinGen gnomAD |
|
|
rs1009622540 CA280414714 |
481 | N>T | No |
ClinGen gnomAD |
|
|
rs777914584 CA280414706 |
482 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8036185 rs747993306 |
485 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs756162190 COSM189213 CA8036183 |
487 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs751692076 CA8036182 |
488 | K>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 488 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8036162 rs758593884 |
489 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA8036161 rs750638471 |
490 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1191130374 CA396086856 |
490 | A>V | No |
ClinGen gnomAD |
|
|
CA396086853 rs1446093064 |
491 | G>C | No |
ClinGen gnomAD |
|
| TCGA novel | 491 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765522953 CA8036160 |
492 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1206683338 CA396086834 |
494 | I>V | No |
ClinGen gnomAD |
|
|
rs757507035 CA8036159 |
497 | G>W | No |
ClinGen ExAC |
|
|
rs754235384 CA8036157 |
498 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754235384 CA396086809 |
498 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8036156 rs764435122 |
498 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA280407710 rs764435122 |
498 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA8036154 rs776015484 |
499 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA396086793 rs1386150288 |
500 | C>R | No |
ClinGen TOPMed |
|
|
CA396086784 rs1326079025 |
501 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 502 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA280407704 COSM970751 rs890860367 |
504 | D>E | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1353002440 CA396086761 |
504 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 505 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396086753 rs772681234 |
505 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs375325538 COSM4129077 CA8036149 |
506 | G>E | thyroid [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs769488772 CA8036150 |
506 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1474841592 CA396086741 |
507 | I>S | No |
ClinGen gnomAD |
|
|
rs367554354 CA8036147 |
508 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746914623 CA8036146 |
509 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs566050581 CA8036143 |
514 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8036142 rs745961632 |
516 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA396086656 rs1373167560 |
518 | D>N | No |
ClinGen TOPMed |
|
|
rs1174006547 CA396086633 |
521 | D>N | No |
ClinGen gnomAD |
|
|
rs1467057527 CA396086622 |
522 | E>G | No |
ClinGen TOPMed |
|
|
rs1436399213 CA396086615 |
523 | H>Y | No |
ClinGen gnomAD |
|
|
CA396086606 rs1378398042 |
524 | Y>C | No |
ClinGen gnomAD |
|
|
CA280407556 rs889997673 |
524 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 525 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA280407525 rs1050309727 |
528 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA396086574 rs1184110531 |
529 | I>L | No |
ClinGen gnomAD |
|
|
rs772141428 CA8036125 |
531 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA396086548 rs1360082124 |
532 | V>G | No |
ClinGen TOPMed |
|
|
CA396086528 rs1223654447 |
535 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs779039839 CA8036123 |
535 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 536 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396086521 rs1320179213 |
536 | I>T | No |
ClinGen TOPMed |
|
|
CA396086524 rs1352076690 |
536 | I>V | No |
ClinGen gnomAD |
|
|
CA396086506 rs1280738468 |
538 | N>S | No |
ClinGen gnomAD |
|
|
CA396086498 rs1412437688 |
539 | N>S | No |
ClinGen gnomAD |
|
|
CA396086488 rs1352212111 |
540 | E>D | No |
ClinGen Ensembl |
|
|
CA8036122 rs770967098 |
541 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8036121 rs749485656 |
544 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280407486 rs940026008 |
549 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA396086429 rs1410140284 |
550 | T>A | No |
ClinGen gnomAD |
|
|
rs1453666822 CA396086427 |
550 | T>I | No |
ClinGen Ensembl |
|
|
rs781600425 CA8036117 |
551 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs753064628 CA8036118 |
551 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1417402433 CA396086401 |
554 | D>G | No |
ClinGen gnomAD |
|
|
CA396086380 rs1281252386 |
557 | E>G | No |
ClinGen gnomAD |
|
|
rs17856884 CA280407479 |
558 | N>S | No |
ClinGen Ensembl |
|
|
rs546451151 CA8036115 |
560 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8036114 rs764770611 |
561 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8036113 rs368639897 |
562 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396086343 rs1448059221 |
563 | T>A | No |
ClinGen gnomAD |
|
|
rs1215040098 CA396086294 |
568 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8036097 COSM970749 rs755336529 |
568 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8036095 rs780451306 |
570 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1363745752 CA396086258 |
573 | T>K | No |
ClinGen gnomAD |
|
|
rs1440030264 CA396086237 |
576 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8036094 rs756738269 |
576 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1198855878 CA396086229 |
577 | P>R | No |
ClinGen gnomAD |
|
|
CA396086205 rs1432986828 |
581 | E>K | No |
ClinGen TOPMed |
|
|
CA280406971 rs1051754660 |
583 | V>E | No |
ClinGen TOPMed |
|
|
CA8036090 rs755815445 |
586 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs752448168 CA8036089 |
588 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767390754 CA8036088 |
589 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA280406944 rs933949248 |
589 | I>V | No |
ClinGen TOPMed |
|
|
rs1376709716 CA396086146 |
590 | E>Q | No |
ClinGen TOPMed |
|
|
rs1445561242 CA396086125 |
593 | T>A | No |
ClinGen TOPMed |
|
|
rs759269642 CA8036087 |
597 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA280406941 rs749239219 |
600 | A>S | No |
ClinGen TOPMed |
|
|
CA396086072 rs1454179094 |
600 | A>V | No |
ClinGen gnomAD |
|
|
rs1254228654 CA396086071 |
601 | R>G | No |
ClinGen gnomAD |
|
|
rs932581951 CA396086051 |
603 | D>E | No |
ClinGen TOPMed |
|
|
CA396086040 rs1277327601 |
605 | S>F | No |
ClinGen TOPMed |
|
|
rs774284671 CA8036086 |
605 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA8036085 rs766231303 |
606 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA8036084 rs763013061 |
607 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 607 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396086028 rs1204699990 |
607 | Q>R | No |
ClinGen gnomAD |
|
|
rs748336053 CA8036081 |
612 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs779118681 CA280406922 |
612 | C>G | No |
ClinGen Ensembl |
|
|
rs748336053 CA396085994 |
612 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA396085980 rs1212236330 |
614 | I>T | No |
ClinGen TOPMed |
|
|
rs149596699 CA8036079 |
619 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8036076 rs146732663 |
623 | T>K | No |
ClinGen 1000Genomes ExAC |
|
|
CA396085917 rs1372664014 |
624 | Q>R | No |
ClinGen gnomAD |
|
|
CA396085885 rs1260679769 |
628 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs909651992 CA280406902 |
628 | I>T | No |
ClinGen Ensembl |
|
|
CA280406900 rs965138116 |
629 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 630 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777400573 CA8036073 |
633 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777400573 CA396085852 |
633 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567440186 CA396085853 |
633 | L>V | No |
ClinGen Ensembl |
|
|
rs755727601 CA8036072 |
635 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA8036071 rs138129923 |
636 | L>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8036070 rs767089061 |
638 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA396085820 rs767089061 |
638 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs370886430 CA396085813 |
639 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8036069 rs370886430 |
639 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 639 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766254686 CA8036067 |
641 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA8036066 rs762773714 |
642 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374314490 CA396085786 |
643 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1372390801 CA396085779 |
644 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1372390801 CA396085780 |
644 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA396085761 CA396085763 rs1306317986 |
646 | M>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 646 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1316299714 CA396085768 |
646 | M>V | No |
ClinGen gnomAD |
|
|
rs150826364 CA8036064 |
647 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 647 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 650 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 651 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8036062 rs141549260 |
652 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA396085704 rs1259771395 |
655 | V>M | No |
ClinGen TOPMed |
|
|
rs149710303 CA8036060 |
656 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8036058 rs775705546 |
663 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs746348166 CA8036056 |
665 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs779597367 CA8036055 |
669 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396085593 rs1175796484 |
670 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1423484253 CA396085589 |
671 | L>I | No |
ClinGen TOPMed |
|
|
CA720978412 rs1466621953 |
672 | F>T | No |
ClinGen TOPMed |
No associated diseases with Q8NEM2
6 regional properties for Q8NEM2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Parallel beta-helix repeat | 428 - 451 | IPR006626-1 |
| repeat | Parallel beta-helix repeat | 452 - 473 | IPR006626-2 |
| repeat | Parallel beta-helix repeat | 474 - 496 | IPR006626-3 |
| repeat | Parallel beta-helix repeat | 497 - 518 | IPR006626-4 |
| repeat | Parallel beta-helix repeat | 526 - 548 | IPR006626-5 |
| domain | Right handed beta helix domain | 422 - 546 | IPR039448 |
Functions
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| midbody | A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis. |
| spindle | The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| SH2 domain binding | Binding to a SH2 domain (Src homology 2) of a protein, a protein domain of about 100 amino-acid residues and belonging to the alpha + beta domain class. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| fibroblast growth factor receptor signaling pathway | The series of molecular signals generated as a consequence of a fibroblast growth factor receptor binding to one of its physiological ligands. |
| regulation of neural precursor cell proliferation | Any process that modulates the frequency, rate or extent of neural precursor cell proliferation. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MADGSLTGGG | LEAAAMAPER | MGWAVEQELA | SLEKGLFQDE | DSCSDCSYRD | KPGSSLQSFM |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PEGKTFFPEI | FQTNQLLFYE | RFRAYQDYIL | ADCKASEVQE | FTAEFLEKVL | EPSGWRAVWH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TNVFKVLVEI | TDVDFAALKA | VVRLAEPYLC | DSQVSTFTME | CMKELLDLKE | HRLPLQELWV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VFDDSGVFDQ | TALAIEHVRF | FYQNIWRSWD | EEEEDEYDYF | VRCVEPRLRL | HYDILEDRVP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SGLIVDYHNL | LSQCEESYRK | FLNLRSSLSN | CNSDSEQENI | SMVEGLKLYS | EMEQLKQKLK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LIENPLLRYV | FGYQKNSNIQ | AKGVRSSGQK | ITHVVSSTMM | AGLLRSLLTD | RLCQEPGEEE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| REIQFHSDPL | SAINACFEGD | TVIVCPGHYV | VHGTFSIADS | IELEGYGLPD | DIVIEKRGKG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DTFVDCTGAD | IKISGIKFVQ | HDAVEGILIV | HRGKTTLENC | VLQCETTGVT | VRTSAEFLMK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NSDLYGAKGA | GIEIYPGSQC | TLSDNGIHHC | KEGILIKDFL | DEHYDIPKIS | MVNNIIHNNE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GYGVVLVKPT | IFSDLQENAE | DGTEENKALK | IQTSGEPDVA | ERVDLEELIE | CATGKMELCA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RTDPSEQVEG | NCEIVNELIA | ASTQKGQIKK | KRLSELGITQ | ADDNLMSQEM | FVGIVGNQFK |
| 670 | |||||
| WNGKGSFGTF | LF |