Q7Z628
Gene name |
NET1 (ARHGEF8) |
Protein name |
Neuroepithelial cell-transforming gene 1 protein |
Names |
Proto-oncogene p65 Net1, Rho guanine nucleotide exchange factor 8 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10276 |
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
3 structures for Q7Z628
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3EO2 | X-ray | 260 A | A | 161-373 | PDB |
| 4XH9 | X-ray | 200 A | A/D | 149-501 | PDB |
| AF-Q7Z628-F1 | Predicted | AlphaFoldDB |
473 variants for Q7Z628
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA375892427 rs1554818513 RCV000577843 |
166 | E>D | Ependymoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA204082 rs796052153 RCV000190140 |
195 | L>F | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs775840996 CA5392230 |
2 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375900782 rs1461138277 |
3 | P>L | No |
ClinGen gnomAD |
|
|
rs1371010835 CA375900772 |
3 | P>T | No |
ClinGen gnomAD |
|
|
CA375900827 rs1449724074 |
7 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA375900831 rs1401074413 |
7 | A>V | No |
ClinGen TOPMed |
|
|
rs1324464509 CA375900839 |
8 | Q>P | No |
ClinGen gnomAD |
|
|
CA375900875 rs1303435307 |
11 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1387402474 CA375900873 |
11 | P>S | No |
ClinGen gnomAD |
|
|
rs1161682058 CA375900880 |
12 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA202194191 rs982596347 |
12 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1165143144 CA375900889 |
13 | P>A | No |
ClinGen TOPMed |
|
|
rs763284083 CA5392231 |
13 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA202194227 rs1015542810 |
14 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA202194225 rs1015542810 |
14 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA202194216 rs1045722841 |
14 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA375900920 rs1428969000 |
16 | R>Q | No |
ClinGen TOPMed |
|
|
rs774046393 CA5392233 |
17 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5392232 rs763917013 |
17 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1192460303 CA375900940 |
18 | R>C | No |
ClinGen gnomAD |
|
|
rs1258973960 CA375900944 |
18 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1258973960 CA375900947 |
18 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs761761946 CA5392234 |
19 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313290331 CA375900971 |
21 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1193918004 CA375900974 |
21 | S>F | No |
ClinGen gnomAD |
|
|
CA375900989 rs1219623712 |
24 | S>G | No |
ClinGen TOPMed |
|
|
rs544068938 CA5392235 |
25 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1588419499 CA375901029 |
27 | G>E | No |
ClinGen Ensembl |
|
|
rs1163464412 CA375901023 |
27 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs750418616 CA5392236 |
28 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750418616 CA375901039 |
28 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375901052 rs1329421015 |
29 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs991902356 CA202194270 |
30 | G>E | No |
ClinGen Ensembl |
|
|
rs1356093770 CA375901086 |
33 | A>T | No |
ClinGen TOPMed |
|
|
rs1208890071 CA375901095 |
33 | A>V | No |
ClinGen gnomAD |
|
|
CA5392240 rs754654538 |
34 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1427861719 CA375901104 |
34 | D>Y | No |
ClinGen TOPMed |
|
|
rs1483910219 CA375901147 |
37 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA375901145 rs1483910219 |
37 | G>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 37 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1483910219 CA375901149 |
37 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA375901143 rs1342199935 |
37 | G>W | No |
ClinGen gnomAD |
|
|
CA5392243 rs757679685 |
39 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs781545991 CA5392244 |
40 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA375901183 rs1252582870 |
41 | D>N | No |
ClinGen TOPMed |
|
|
CA202194323 rs950242118 |
42 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1471845223 CA375901199 |
42 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs950242118 CA375901205 |
42 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA375901202 rs1471845223 |
42 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA5392246 rs769935178 |
43 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368211231 CA375901208 |
43 | R>K | No |
ClinGen TOPMed |
|
|
rs1459502842 CA375888540 |
43 | R>S | No |
ClinGen Ensembl |
|
|
rs1407838605 CA375888554 |
45 | S>F | No |
ClinGen gnomAD |
|
|
CA5392261 rs752461321 |
46 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA375888562 rs374584284 |
47 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5392262 rs374584284 |
47 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375888561 rs1159337301 |
47 | R>W | No |
ClinGen gnomAD |
|
|
CA5392263 rs368254317 |
49 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs990353482 CA375888583 |
50 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5392264 rs746311540 |
53 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs756721974 CA5392265 |
53 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs749357959 CA5392267 |
55 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA202210777 rs921086882 |
58 | G>S | No |
ClinGen TOPMed |
|
|
CA375888639 rs1588426315 |
60 | N>H | No |
ClinGen Ensembl |
|
|
CA5392269 rs779002760 |
60 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs938984799 CA375888643 |
60 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA5392270 rs779002760 |
60 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA202210796 rs1036063177 |
62 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5392271 rs771709270 |
62 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA5392272 rs773087864 |
64 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1160082298 CA375889027 |
66 | K>E | No |
ClinGen TOPMed |
|
|
COSM918880 rs776534266 CA5392294 |
69 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs201465257 CA5392295 |
69 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201465257 CA375889078 |
69 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5392296 rs375050925 |
70 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5392297 rs775097623 |
72 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA5392299 rs763782441 |
73 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5392301 rs199764175 |
76 | V>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5392300 rs751299175 |
76 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs766910511 CA5392302 |
80 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs754342915 CA375889236 |
81 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA375889279 rs1255515255 |
85 | K>E | No |
ClinGen TOPMed |
|
|
rs778806339 CA5392305 |
85 | K>T | No |
ClinGen ExAC TOPMed |
|
|
CA5392362 rs775748520 |
86 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1200544182 CA375891565 |
86 | E>K | No |
ClinGen gnomAD |
|
|
rs559018095 CA5392364 |
88 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774878618 CA5392365 |
88 | S>R | No |
ClinGen ExAC TOPMed |
|
|
rs376079720 CA5392366 |
92 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA202222937 rs267602526 |
93 | R>* | No |
ClinGen gnomAD |
|
|
CA375891617 rs1219783347 |
94 | P>S | No |
ClinGen gnomAD |
|
|
rs750603546 CA5392368 |
97 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA375891633 rs750603546 |
97 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5392369 rs368625548 |
97 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375891647 rs1338208554 COSM427672 COSM427671 |
99 | T>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs754857685 CA5392372 |
100 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA375891653 rs1319933132 |
101 | L>V | No |
ClinGen gnomAD |
|
|
rs752738079 CA5392374 |
103 | N>K | No |
ClinGen ExAC |
|
|
rs1451368480 CA375891699 |
108 | V>I | No |
ClinGen gnomAD |
|
|
rs757921645 CA5392376 |
110 | N>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 112 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375891735 rs1211322981 |
113 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA375891732 rs1256039366 |
113 | V>L | No |
ClinGen Ensembl |
|
|
rs770943371 CA5392378 |
115 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5392379 rs758032740 |
115 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1288843575 CA375891768 |
117 | G>D | No |
ClinGen TOPMed |
|
|
CA202222977 rs1015944287 |
120 | I>V | No |
ClinGen TOPMed |
|
|
rs1487034115 CA375891963 COSM179204 COSM179203 |
122 | S>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA5392392 rs754177120 |
123 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1424863316 CA375891998 |
126 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5392394 rs146200933 |
126 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5392395 rs146200933 |
126 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375892002 rs146200933 |
126 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763610743 CA5392397 |
127 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs139203225 CA5392396 |
127 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756832701 CA202223134 |
128 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA5392398 rs756832701 |
128 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5392399 rs756832491 |
128 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs780704844 CA5392400 |
129 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1588439755 CA375892041 |
131 | S>P | No |
ClinGen Ensembl |
|
|
CA202223150 rs374406538 |
133 | A>G | No |
ClinGen Ensembl |
|
| TCGA novel | 133 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5392402 rs755279200 |
134 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs531210844 CA202223156 |
136 | Q>P | No |
ClinGen 1000Genomes |
|
|
CA5392403 rs149871083 |
137 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5392404 rs748617913 |
138 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs772482746 CA375892150 |
141 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773822256 CA5392406 |
141 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA375892171 rs1310025485 |
143 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1588439789 CA375892185 |
144 | V>A | No |
ClinGen Ensembl |
|
|
CA202223175 rs564198399 |
146 | T>I | No |
ClinGen Ensembl |
|
|
CA375892204 rs564198399 |
146 | T>K | No |
ClinGen Ensembl |
|
|
CA375892196 rs1588439795 |
146 | T>P | No |
ClinGen Ensembl |
|
|
CA5392409 rs776932264 |
147 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs926410877 CA202223177 |
147 | P>S | No |
ClinGen Ensembl |
|
|
CA5392412 rs775446522 |
148 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775446522 CA5392413 |
148 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375892229 rs1185961933 |
149 | K>R | No |
ClinGen gnomAD |
|
|
CA5392414 rs552295716 |
151 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA375892247 rs552295716 |
151 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751581044 CA5392415 |
152 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA5392417 rs570787226 |
159 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 160 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375892362 rs1175112861 |
161 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1412920656 CA375892358 |
161 | D>N | No |
ClinGen gnomAD |
|
|
rs1359515175 CA375892381 |
163 | T>A | No |
ClinGen gnomAD |
|
|
CA202223218 rs572860536 CA375892390 |
164 | M>L | No |
ClinGen TOPMed |
|
|
CA5392418 rs760269274 |
164 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA375892407 rs1588439862 |
165 | K>T | No |
ClinGen Ensembl |
|
|
rs755797607 CA375892441 |
168 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755797607 CA5392419 |
168 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA202223222 rs77554069 |
170 | T>A | No |
ClinGen ESP TOPMed |
|
|
rs1446909061 CA375892462 |
170 | T>I | No |
ClinGen gnomAD |
|
|
rs1564468048 CA375892466 |
171 | R>K | No |
ClinGen Ensembl |
|
|
CA5392421 rs748493518 |
172 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1588439889 CA375892490 |
173 | I>F | No |
ClinGen Ensembl |
|
| TCGA novel | 174 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5392424 rs747561109 |
175 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5392423 COSM1135023 COSM1135024 rs778125606 |
175 | R>W | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5392425 rs770846739 |
176 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA375892527 rs1210653803 |
177 | E>K | No |
ClinGen TOPMed |
|
|
CA375892585 rs1177007720 |
178 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 179 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5392443 rs781776606 |
180 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs369746605 CA5392444 |
182 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1469894849 CA375892624 |
182 | M>V | No |
ClinGen TOPMed |
|
|
rs373461269 CA5392445 |
184 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 184 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377267362 CA375892648 |
184 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377267362 CA5392446 |
184 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5392447 rs749539181 |
185 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA375892656 rs749539181 |
185 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA5392448 rs768271056 |
187 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA202223451 rs1033527845 |
187 | Q>R | No |
ClinGen Ensembl |
|
|
rs1404266358 CA375892678 |
188 | D>N | No |
ClinGen gnomAD |
|
|
rs200860140 CA202223456 |
190 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA375892722 rs1209462563 |
191 | E>D | No |
ClinGen TOPMed |
|
|
rs1287651014 CA375892755 |
194 | K>R | No |
ClinGen TOPMed |
|
|
rs370808971 CA5392450 |
197 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs4567355 CA375892859 CA375892857 |
200 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756205462 CA5392464 |
201 | H>R | No |
ClinGen ExAC gnomAD |
|
| VAR_035972 | 202 | D>N | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
rs894380059 CA202223637 |
204 | M>T | No |
ClinGen TOPMed |
|
|
CA375892956 rs1385079822 |
209 | I>T | No |
ClinGen gnomAD |
|
|
rs768947309 CA5392467 |
211 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1252124237 CA375893054 |
217 | H>Y | No |
ClinGen TOPMed |
|
|
CA375893069 rs1206680688 |
218 | I>T | No |
ClinGen gnomAD |
|
|
rs779055914 CA5392468 |
218 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5392469 rs747947249 |
219 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA375893081 rs1286430184 |
219 | F>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 220 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375893122 rs1198987509 |
223 | D>Y | No |
ClinGen TOPMed |
|
|
CA5392470 rs771925361 |
225 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs771925361 CA375893142 |
225 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs746950171 CA5392472 |
226 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs770384396 CA5392473 |
227 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA375893176 rs1228145582 |
229 | H>Y | No |
ClinGen gnomAD |
|
|
rs1177412078 CA375893188 |
230 | E>A | No |
ClinGen gnomAD |
|
|
rs1380558860 CA375893195 |
231 | D>N | No |
ClinGen gnomAD |
|
|
CA375893321 rs1475434998 |
239 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5392496 rs372145323 |
240 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375893354 rs1393402928 |
242 | P>S | No |
ClinGen gnomAD |
|
|
CA5392499 rs773741515 |
244 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs766884323 CA5392501 |
248 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375893419 rs766884323 |
248 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA202223892 rs755077949 |
249 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775310225 CA5392502 |
249 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs564836015 CA5392504 |
251 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5392505 rs752870844 |
252 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1397098323 CA375893485 |
254 | V>A | No |
ClinGen TOPMed |
|
|
rs151234884 CA5392507 |
254 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151234884 CA5392506 |
254 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375893498 rs201881295 |
255 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA202224332 rs893612064 |
258 | P>L | No |
ClinGen Ensembl |
|
|
rs758204951 CA5392528 |
259 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5392529 rs750324554 |
259 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165670097 CA375893904 |
261 | N>S | No |
ClinGen gnomAD |
|
|
rs995954594 CA202224341 |
262 | A>V | No |
ClinGen Ensembl |
|
|
rs1364186746 CA375893923 |
264 | R>K | No |
ClinGen TOPMed |
|
|
rs1286838364 CA375893929 |
265 | G>R | No |
ClinGen gnomAD |
|
|
rs756036110 CA5392530 |
265 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1452817963 CA375893940 |
266 | Y>* | No |
ClinGen gnomAD |
|
|
rs61754990 CA5392533 |
272 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 274 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5392534 rs778699391 |
275 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328399768 CA375894014 |
278 | D>N | No |
ClinGen TOPMed |
|
|
CA375894019 rs1382851060 |
278 | D>V | No |
ClinGen gnomAD |
|
|
CA202224358 rs146985331 |
279 | Q>E | No |
ClinGen ESP TOPMed |
|
|
CA354942 RCV000209865 rs869312683 |
280 | K>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs371688080 CA5392535 |
281 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5392536 rs771282421 |
283 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs771282421 CA375894052 |
283 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1215521207 CA375894062 |
284 | P>L | No |
ClinGen gnomAD |
|
|
CA5392537 rs776894777 |
285 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs759987982 CA5392538 |
287 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759987982 CA202224399 |
287 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 288 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5392539 rs770265697 |
292 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA5392540 rs770265697 |
292 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA202224430 rs931423338 |
293 | C>R | No |
ClinGen TOPMed |
|
|
rs1445287809 CA375894120 |
293 | C>W | No |
ClinGen gnomAD |
|
| TCGA novel | 294 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 294 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751723448 CA5392543 |
295 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5392542 rs764163990 |
295 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1343012741 CA375894132 |
295 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA202224434 rs911304753 |
296 | S>F | No |
ClinGen TOPMed |
|
|
rs761963072 CA5392544 |
297 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA5392545 rs767303188 |
299 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs962117665 CA375894160 |
300 | R>* | No |
ClinGen gnomAD |
|
|
CA5392546 rs750153130 |
300 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1406672362 CA375894169 |
301 | K>N | No |
ClinGen gnomAD |
|
|
CA5392547 rs755984653 |
302 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA375894172 rs1454151007 |
302 | L>V | No |
ClinGen gnomAD |
|
|
CA375894185 rs1223977566 |
304 | L>F | No |
ClinGen gnomAD |
|
|
CA5392548 rs750390330 |
305 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA375894211 rs1272407678 |
307 | F>L | No |
ClinGen TOPMed |
|
|
rs753890242 CA5392549 |
310 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA375894228 rs1319072958 |
310 | I>V | No |
ClinGen gnomAD |
|
|
rs1263085638 CA375894238 |
312 | R>* | No |
ClinGen gnomAD |
|
|
CA202224472 rs994565979 |
312 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs754467713 CA5392550 |
313 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA375894252 rs1205204380 |
314 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5392551 rs778576326 |
315 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1588441267 CA375894256 |
315 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 320 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 322 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5392554 rs777534435 |
323 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1409956306 CA375894322 |
325 | I>F | No |
ClinGen gnomAD |
|
| TCGA novel | 326 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5392556 rs746208601 |
326 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5392555 rs746208601 |
326 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5392557 rs377523635 |
331 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA375894363 rs1429917139 |
331 | K>R | No |
ClinGen gnomAD |
|
|
CA5392558 rs749810077 |
333 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1328752255 CA375894405 |
337 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5392560 rs774324552 |
340 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs545979388 CA5392561 |
341 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5392572 rs746680053 |
343 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5392573 rs756413323 |
344 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA5392574 rs780419709 |
348 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1346509294 CA375894493 |
349 | V>I | No |
ClinGen gnomAD |
|
|
CA5392575 rs749754949 |
350 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 352 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA202224778 rs201182048 |
353 | I>T | No |
ClinGen 1000Genomes |
|
|
CA375894528 rs1268959924 |
354 | N>T | No |
ClinGen gnomAD |
|
|
rs769120430 CA5392576 |
357 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA5392577 rs774969026 |
358 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5392578 rs748162590 |
360 | S>F | No |
ClinGen ExAC gnomAD |
|
|
COSM3807334 COSM3807333 CA5392580 rs773238555 |
361 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA202224817 rs377334144 |
362 | C>F | No |
ClinGen ESP |
|
|
CA375894580 rs1269379691 |
362 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1319588194 CA375894590 |
363 | Q>R | No |
ClinGen TOPMed |
|
|
CA375894599 rs1191176049 |
364 | Y>F | No |
ClinGen gnomAD |
|
|
rs766223722 CA5392582 |
365 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA5392584 rs780878115 |
367 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5392588 rs763676175 |
373 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs572187183 CA5392587 |
373 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA375894680 rs1173804499 |
376 | Q>* | No |
ClinGen gnomAD |
|
|
rs1316600418 CA375894722 |
382 | E>K | No |
ClinGen gnomAD |
|
|
CA5392590 rs756934022 |
383 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5392593 rs755393221 |
385 | K>E | No |
ClinGen ExAC |
|
|
CA375894748 rs1564469415 |
385 | K>N | No |
ClinGen Ensembl |
|
|
rs1380631661 CA375894759 |
387 | L>P | No |
ClinGen gnomAD |
|
|
CA375894778 rs1306668516 |
390 | H>R | No |
ClinGen gnomAD |
|
|
CA5392596 rs150393153 |
394 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141666952 CA5392595 |
394 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5392597 rs777927954 |
398 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5392598 rs371604395 |
399 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 404 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375894890 rs1160618737 |
405 | L>V | No |
ClinGen gnomAD |
|
|
rs1427822887 CA375894899 |
406 | F>C | No |
ClinGen gnomAD |
|
|
rs775386441 CA5392620 |
407 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA5392619 rs746108427 |
407 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746108427 CA5392618 |
407 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5392621 rs762696046 |
409 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1389938583 CA375894920 |
409 | I>M | No |
ClinGen gnomAD |
|
|
rs1195033836 CA375894918 |
409 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA375894929 rs1336535761 |
411 | V>L | No |
ClinGen gnomAD |
|
|
rs199808307 CA202225337 |
414 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199808307 CA5392623 |
414 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375894951 rs1408725996 |
415 | P>T | No |
ClinGen TOPMed |
|
|
CA5392625 rs149569698 |
416 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375894955 rs149569698 |
416 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375894961 rs1224038057 |
417 | T>A | No |
ClinGen gnomAD |
|
|
CA5392626 RCV000959705 rs34658946 VAR_051982 |
417 | T>I | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs34658946 CA5392627 |
417 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371131105 CA5392628 |
418 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758752089 CA5392630 |
420 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5392632 rs752119110 |
421 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5392631 rs139037982 |
421 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA202225377 rs901120132 |
423 | S>F | No |
ClinGen TOPMed |
|
|
CA591842167 rs1480435073 |
424 | Y>* | No |
ClinGen gnomAD |
|
|
rs1475584668 CA375895264 |
425 | Q>L | No |
ClinGen TOPMed |
|
|
rs746037180 CA5392635 |
427 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746037180 CA375895286 |
427 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5392637 rs780188577 |
428 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5392636 rs756328814 |
428 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA375895302 rs1483112892 |
429 | Q>K | No |
ClinGen TOPMed |
|
|
rs1462870235 CA375895322 |
430 | P>S | No |
ClinGen gnomAD |
|
|
CA5392638 rs540059620 COSM212015 COSM212014 |
431 | I>V | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs969922933 CA202225420 |
434 | Q>R | No |
ClinGen gnomAD |
|
|
CA375895391 rs1285144439 |
435 | E>Q | No |
ClinGen gnomAD |
|
|
CA5392640 rs774206420 |
436 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1226066671 CA375895422 |
438 | L>I | No |
ClinGen gnomAD |
|
|
rs1341109609 CA375895440 |
439 | E>G | No |
ClinGen gnomAD |
|
|
rs1290102993 CA375895452 |
440 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1290102993 CA375895448 |
440 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA5392642 rs146371164 |
445 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375895532 rs1200547755 |
446 | V>M | No |
ClinGen gnomAD |
|
|
rs772735811 CA5392643 |
448 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA5392644 rs772735811 |
448 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs981110431 CA202225440 |
450 | G>A | No |
ClinGen Ensembl |
|
|
rs766045697 CA5392645 |
453 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA202225445 rs928258554 |
453 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5392648 rs764570797 |
458 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA375895720 rs1304664294 |
459 | S>L | No |
ClinGen gnomAD |
|
|
rs757872779 CA5392650 |
462 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 464 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM262387 COSM262388 rs150542987 CA5392675 |
469 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5392676 rs750957300 |
469 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750957300 CA375895909 |
469 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA202225752 rs373651845 |
471 | H>Y | No |
ClinGen ESP |
|
|
rs1018720035 CA202225755 |
472 | D>A | No |
ClinGen Ensembl |
|
|
CA375895970 rs1466589618 |
473 | P>L | No |
ClinGen gnomAD |
|
|
rs760741100 CA5392677 |
473 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760741100 CA375895961 |
473 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA202225756 rs975094171 |
475 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs766382399 CA5392678 |
477 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1408111953 CA375896011 |
477 | Q>R | No |
ClinGen TOPMed |
|
|
rs754039301 CA5392679 |
480 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375896044 rs1165972919 |
480 | T>S | No |
ClinGen gnomAD |
|
|
rs754039301 CA375896050 |
480 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375896055 rs1405583239 |
481 | L>V | No |
ClinGen gnomAD |
|
|
CA375896062 rs1418315678 |
482 | Q>K | No |
ClinGen gnomAD |
|
|
CA375896080 rs1159480466 |
483 | A>S | No |
ClinGen gnomAD |
|
|
rs374195268 CA5392681 |
486 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752463889 CA5392682 |
487 | F>L | No |
ClinGen ExAC |
|
|
CA375896268 rs1322633964 |
490 | Q>P | No |
ClinGen gnomAD |
|
| TCGA novel | 493 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777702059 CA5392684 |
495 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5392685 rs149676418 |
497 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147838790 CA5392687 |
498 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5392689 rs769549692 |
499 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA202225823 rs1043593176 |
500 | I>F | No |
ClinGen TOPMed |
|
|
CA5392691 rs762261978 |
502 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA5392692 rs201622703 |
502 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201622703 CA375896423 |
502 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201622703 CA202225841 |
502 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 503 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866502717 CA202225846 |
503 | F>Y | No |
ClinGen Ensembl |
|
|
CA5392694 rs773709899 |
504 | Q>H | No |
ClinGen ExAC TOPMed |
|
|
CA375896451 rs1212280704 |
504 | Q>R | No |
ClinGen gnomAD |
|
|
rs766438612 CA5392696 |
505 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5392695 rs761104612 |
505 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs765444267 CA5392699 |
506 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765444267 CA375896473 |
506 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758135988 CA5392701 |
509 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA375896573 rs1462170828 |
513 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA375896577 rs1309091434 |
514 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1352682828 CA375896580 |
514 | G>D | No |
ClinGen gnomAD |
|
|
rs1309091434 CA375896575 |
514 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs781241424 CA5392705 |
516 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1368836922 CA375896591 |
517 | E>* | No |
ClinGen gnomAD |
|
|
CA375896593 rs1368836922 |
517 | E>K | No |
ClinGen gnomAD |
|
|
CA375896596 rs1485880930 |
517 | E>V | No |
ClinGen gnomAD |
|
|
CA5392707 rs769494085 |
519 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375896606 rs1157668334 |
519 | H>Y | No |
ClinGen TOPMed |
|
|
CA375896614 rs1307201123 |
520 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM427675 CA5392709 RCV000948826 rs34821949 COSM427676 |
520 | E>K | breast [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs34821949 CA375896611 |
520 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5392711 rs201895973 |
521 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1588442717 CA375896627 |
522 | C>G | No |
ClinGen Ensembl |
|
|
CA5392712 rs761136760 |
522 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs374018048 CA5392713 |
525 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 525 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1588442735 CA375896658 |
526 | H>P | No |
ClinGen Ensembl |
|
|
CA375896662 rs1206789519 |
527 | P>A | No |
ClinGen TOPMed |
|
|
CA5392715 rs759548072 |
527 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375896664 rs759548072 |
527 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs527266291 CA5392716 |
529 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs77930344 CA5392717 |
529 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1170071768 CA375896681 |
530 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA375896686 rs1161477456 |
531 | K>T | No |
ClinGen gnomAD |
|
|
rs751290567 CA5392720 |
535 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs201555159 CA5392722 |
536 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755625540 CA5392724 |
538 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779732760 CA5392725 |
540 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1564470185 CA375896745 |
541 | V>I | No |
ClinGen Ensembl |
|
|
CA5392726 rs748905401 |
543 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5392727 rs754551039 |
543 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1221489341 CA375896768 |
544 | V>A | No |
ClinGen gnomAD |
|
|
CA5392729 rs778674040 |
545 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs531847425 CA5392730 |
546 | Q>* | No |
ClinGen 1000Genomes ExAC |
|
|
rs151075877 CA5392731 |
547 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746400460 CA5392733 |
549 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746400460 CA202226025 |
549 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139000528 CA5392735 |
553 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150193970 CA202226031 |
553 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5392734 rs139000528 |
553 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM268138 rs763143040 CA375896839 COSM268139 |
555 | R>S | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5392737 rs764210399 |
556 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761445992 CA5392739 |
557 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375896856 rs767356420 |
558 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767356420 CA5392740 |
558 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226214091 CA375896860 |
559 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1226214091 CA375896862 |
559 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA375896870 rs1295792847 |
560 | M>I | No |
ClinGen TOPMed |
|
|
CA375896863 rs1435907174 |
560 | M>L | No |
ClinGen gnomAD |
|
|
rs1322574540 CA375896881 |
562 | M>V | No |
ClinGen gnomAD |
|
|
rs1380935307 CA375896894 |
563 | A>V | No |
ClinGen gnomAD |
|
|
CA5392742 rs142260154 |
564 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs55901782 CA202226079 |
565 | D>N | No |
ClinGen Ensembl |
|
|
rs766456457 CA5392743 |
568 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs753371663 CA5392744 |
569 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 571 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5392745 rs754572273 |
571 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283516350 CA375896961 |
572 | H>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 574 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5392746 rs778422389 |
576 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1240718633 CA375896989 |
577 | G>S | No |
ClinGen gnomAD |
|
|
rs926523708 CA202226100 |
579 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs757517284 CA5392748 |
579 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5392749 rs781572048 |
581 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5392750 rs746275592 |
581 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5392752 rs776035764 |
583 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1342449461 CA375897059 |
588 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA5392754 rs768787790 |
589 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs149626244 CA5392756 |
591 | R>Q | Variant assessed as Somatic; 5.117e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs138397277 CA5392755 |
591 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375897081 rs1322239067 |
592 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 593 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q7Z628
No regional properties for Q7Z628
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q7Z628 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to hydrogen peroxide | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hydrogen peroxide (H2O2) stimulus. |
| cellular response to ionizing radiation | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a ionizing radiation stimulus. Ionizing radiation is radiation with sufficient energy to remove electrons from atoms and may arise from spontaneous decay of unstable isotopes, resulting in alpha and beta particles and gamma rays. Ionizing radiation also includes X-rays. |
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| myoblast migration | The orderly movement of a myoblast from one site to another, often during the development of a multicellular organism. A myoblast is a cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers. |
| 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 GTPase activity | Any process that activates or increases the activity of a GTPase. |
| positive regulation of Rho protein signal transduction | Any process that activates or increases the frequency, rate or extent of Rho protein signal transduction. |
| regulation of cell growth | Any process that modulates the frequency, rate, extent or direction of cell growth. |
| regulation of small GTPase mediated signal transduction | Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction. |
| 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. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9NR81 | ARHGEF3 | Rho guanine nucleotide exchange factor 3 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEPELAAQKQ | PRPRRRSRRA | SGLSTEGATG | PSADTSGSEL | DGRCSLRRGS | SFTFLTPGPN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| WDFTLKRKRR | EKDDDVVSLS | SLDLKEPSNK | RVRPLARVTS | LANLISPVRN | GAVRRFGQTI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QSFTLRGDHR | SPASAQKFSS | RSTVPTPAKR | RSSALWSEML | DITMKESLTT | REIRRQEAIY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EMSRGEQDLI | EDLKLARKAY | HDPMLKLSIM | SEEELTHIFG | DLDSYIPLHE | DLLTRIGEAT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KPDGTVEQIG | HILVSWLPRL | NAYRGYCSNQ | LAAKALLDQK | KQDPRVQDFL | QRCLESPFSR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KLDLWSFLDI | PRSRLVKYPL | LLKEILKHTP | KEHPDVQLLE | DAILIIQGVL | SDINLKKGES |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ECQYYIDKLE | YLDEKQRDPR | IEASKVLLCH | GELRSKSGHK | LYIFLFQDIL | VLTRPVTRNE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RHSYQVYRQP | IPVQELVLED | LQDGDVRMGG | SFRGAFSNSE | KAKNIFRIRF | HDPSPAQSHT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LQANDVFHKQ | QWFNCIRAAI | APFQSAGSPP | ELQGLPELHE | ECEGNHPSAR | KLTAQRRAST |
| 550 | 560 | 570 | 580 | 590 | |
| VSSVTQVEVD | ENAYRCGSGM | QMAEDSKSLK | THQTQPGIRR | ARDKALSGGK | RKETLV |