P35606
PR
Gene name |
COPB2 |
Protein name |
Coatomer subunit beta' |
Names |
Beta'-coat protein, Beta'-COP, p102 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9276 |
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 P35606
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8D30 | X-ray | 240 A | A/B | 1-597 | PDB |
| 8D41 | X-ray | 200 A | A/B | 1-300 | PDB |
| AF-P35606-F1 | Predicted | AlphaFoldDB |
529 variants for P35606
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1229568621 VAR_080601 COSM1039110 CA354758675 RCV000516154 |
254 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium Microcephaly 19, primary, autosomal recessive MCPH19; unknown pathological significance [NCI-TCGA, Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
CA2641641 rs764300199 |
2 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs867802912 CA83982417 COSM1670599 |
4 | R>* | large_intestine central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA354768692 rs1445167036 |
4 | R>Q | No |
ClinGen gnomAD |
|
|
CA2641638 rs772313542 |
5 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA2641639 rs772313542 |
5 | L>V | No |
ClinGen ExAC gnomAD |
|
|
COSM205190 rs1560022040 CA354768676 |
6 | D>G | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA83982405 rs915447352 |
6 | D>N | No |
ClinGen Ensembl |
|
|
rs1482607459 CA354768656 |
7 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1201249764 CA354768664 |
7 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 17 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA83982388 rs987417549 |
18 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2641635 rs771058803 |
21 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749180819 CA83982366 |
25 | P>L | No |
ClinGen ExAC TOPMed |
|
|
rs749180819 CA2641634 |
25 | P>R | No |
ClinGen ExAC TOPMed |
|
|
rs1385600520 CA354768429 |
26 | T>A | No |
ClinGen gnomAD |
|
|
CA2641632 rs769415710 |
28 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173001976 CA354768382 |
29 | W>L | No |
ClinGen TOPMed |
|
|
CA2641631 rs747994042 |
30 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 31 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA83982356 rs867094679 |
32 | A>T | No |
ClinGen Ensembl |
|
|
CA2641630 rs780949388 |
33 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354768284 rs1167716497 |
36 | N>S | No |
ClinGen gnomAD |
|
|
CA2641627 rs779696138 |
37 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA354768264 rs1181638626 |
38 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 39 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 41 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1422750411 CA354768164 |
45 | E>Q | No |
ClinGen TOPMed gnomAD |
|
| rs754242337 | 47 | Q>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2641588 rs778475722 |
50 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs961387244 CA83979909 |
50 | V>M | No |
ClinGen TOPMed |
|
|
rs1470639058 CA354766468 |
52 | T>K | No |
ClinGen gnomAD |
|
|
CA354766419 rs1171601765 |
55 | V>I | No |
ClinGen gnomAD |
|
|
CA2641586 rs748591551 |
56 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA83979884 rs1024956860 |
56 | C>Y | No |
ClinGen TOPMed |
|
|
CA354766308 rs1375117702 |
60 | V>A | No |
ClinGen gnomAD |
|
|
rs865791687 CA83979883 |
62 | A>V | No |
ClinGen Ensembl |
|
|
CA354766257 rs1191720567 |
63 | A>T | No |
ClinGen gnomAD |
|
|
CA83979873 rs1014271483 |
65 | F>S | No |
ClinGen TOPMed |
|
|
CA83979869 rs113874188 |
70 | N>K | No |
ClinGen Ensembl |
|
|
rs755282959 CA2641584 |
71 | W>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 75 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354765992 rs1317820839 |
76 | A>T | No |
ClinGen Ensembl |
|
|
CA354765982 rs1252559697 |
76 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1292442429 CA354765942 |
78 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2641561 rs779015197 |
83 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs79043251 CA2641563 |
83 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs79043251 CA2641562 |
83 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2641560 rs757373467 |
85 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2641559 rs747657893 |
87 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354765748 rs1314942873 |
89 | L>R | No |
ClinGen TOPMed |
|
| TCGA novel | 93 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760677360 CA2641557 |
94 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354765679 rs1409633207 |
94 | M>V | No |
ClinGen gnomAD |
|
|
CA2641556 rs752646717 |
97 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 100 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 100 | D>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1404059035 CA354765560 |
102 | I>V | No |
ClinGen gnomAD |
|
|
rs997945949 CA83979628 |
103 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1413246140 CA354765513 |
106 | A>D | No |
ClinGen gnomAD |
|
|
CA354765505 rs759267155 |
107 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759267155 CA2641555 |
107 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759267155 CA2641554 |
107 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354765493 rs1471164301 |
108 | H>Y | No |
ClinGen gnomAD |
|
|
CA2641553 rs774002954 |
110 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2641550 rs772684544 |
116 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1224714286 CA354764425 |
117 | S>N | No |
ClinGen gnomAD |
|
|
rs771491387 CA2641522 |
125 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA354764066 rs771491387 |
125 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1433471021 CA354764049 |
126 | W>R | No |
ClinGen gnomAD |
|
|
rs749458128 CA2641521 |
128 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs966272122 CA83979158 |
129 | D>A | No |
ClinGen TOPMed |
|
|
rs1319956328 CA354763966 |
129 | D>N | No |
ClinGen gnomAD |
|
|
rs1470312251 CA354763941 |
130 | K>E | No |
ClinGen gnomAD |
|
|
CA2641520 rs201752620 |
133 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354763859 rs756173261 |
134 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756173261 CA2641519 |
134 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1035392737 CA83979137 |
135 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1035392737 CA354763844 |
135 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA2641518 rs748203817 |
136 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 136 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1240047512 CA354763641 |
143 | H>R | No |
ClinGen TOPMed |
|
|
CA2641517 rs754846971 |
145 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2641516 rs754846971 |
145 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA2641515 rs751553410 |
148 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA354763520 rs1284391398 |
149 | V>A | No |
ClinGen TOPMed |
|
|
CA2641514 rs766156570 |
152 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs144953960 CA83979127 |
156 | N>D | No |
ClinGen ESP |
|
|
CA2641513 rs758193065 |
158 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs750020048 CA2641512 |
159 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1576376963 CA354763232 |
160 | S>G | No |
ClinGen Ensembl |
|
|
rs1216889754 CA354763154 |
162 | S>C | No |
ClinGen gnomAD |
|
|
CA354763082 rs1297428610 |
164 | D>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 166 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747935086 CA83979103 |
167 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 168 | K>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354762980 rs1487887759 |
168 | K>R | No |
ClinGen TOPMed |
|
|
rs1576375941 CA354762479 |
169 | V>G | No |
ClinGen Ensembl |
|
|
rs551090312 CA2641496 |
169 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2641493 rs531292042 |
172 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2641491 rs753594787 |
174 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354762359 rs753594787 |
174 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763447857 CA2641490 |
175 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA83977793 rs868639375 |
177 | P>Q | No |
ClinGen Ensembl |
|
|
CA2641488 rs752067651 |
177 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA354762119 rs1409892293 |
183 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs895199866 CA83977767 |
184 | H>Q | No |
ClinGen gnomAD |
|
|
rs1168850931 CA354762025 |
187 | G>C | No |
ClinGen TOPMed |
|
|
rs1317548138 CA354761990 |
188 | V>G | No |
ClinGen gnomAD |
|
|
CA2641485 rs562384651 |
191 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 193 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199603762 CA2641484 |
194 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1463240500 CA354761867 |
194 | Y>H | No |
ClinGen TOPMed |
|
|
rs1354297147 CA354761852 |
195 | S>G | No |
ClinGen TOPMed |
|
|
rs761934255 CA2641483 |
195 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA2641481 rs768559452 |
196 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA2641482 rs776914376 |
196 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA354761777 rs200624793 CA2641476 |
198 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs771976275 CA2641478 |
198 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA354761761 rs1560018599 |
199 | K>N | No |
ClinGen Ensembl |
|
|
CA2641473 rs757082221 |
209 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2641472 rs753376633 |
211 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs755649857 CA2641470 |
213 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA2641471 rs777507799 |
213 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 215 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs942129170 CA83977689 |
216 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2641453 rs540190067 |
218 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs887635865 CA83977290 |
221 | C>Y | No |
ClinGen TOPMed |
|
|
CA354759592 rs1233133050 |
224 | T>K | No |
ClinGen TOPMed |
|
|
rs1047990511 CA83977283 |
225 | L>M | No |
ClinGen TOPMed |
|
|
CA2641450 rs755801425 |
228 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354759445 rs1233418384 COSM1536729 |
229 | A>T | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs370518824 CA2641449 |
233 | S>C | No |
ClinGen ESP ExAC |
|
| TCGA novel | 236 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354759217 rs1432299179 |
237 | F>S | No |
ClinGen gnomAD |
|
|
CA83977221 rs544533910 |
243 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2641447 rs544533910 |
243 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397415239 CA354759052 |
244 | I>F | No |
ClinGen gnomAD |
|
|
rs757521749 CA2641444 |
247 | G>A | No |
ClinGen ExAC |
|
|
rs765795175 CA2641445 |
247 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA354758880 rs1210490327 |
250 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 253 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756486783 CA2641424 |
253 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs752870418 CA2641423 |
254 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 256 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1017527586 CA83976805 |
258 | S>L | No |
ClinGen Ensembl |
|
|
CA354758545 rs1283290340 |
259 | S>G | No |
ClinGen gnomAD |
|
|
CA2641422 rs767760275 |
260 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1352790979 CA354758457 |
262 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
TCGA novel CA354758461 rs1576375065 |
262 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs1286831971 CA354758439 |
263 | L>P | No |
ClinGen gnomAD |
|
|
rs759721056 CA2641421 |
264 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1350975191 CA354758396 |
265 | S>I | No |
ClinGen gnomAD |
|
|
rs370965357 CA2641419 |
269 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2641418 rs370965357 |
269 | Y>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1269974473 CA354758299 |
270 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 272 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761724432 CA2641415 |
274 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs145236474 CA2641416 |
274 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2641417 rs145236474 |
274 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1576375034 CA354758170 |
276 | C>G | No |
ClinGen Ensembl |
|
|
rs1179755010 CA354758142 |
277 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA354758095 rs1483073319 |
279 | S>N | No |
ClinGen TOPMed |
|
|
rs138538036 CA2641411 |
285 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1444051181 CA354757966 |
286 | V>I | No |
ClinGen TOPMed |
|
|
CA2641410 rs771486381 COSM3427143 |
287 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1288525913 CA354757909 |
288 | L>S | No |
ClinGen gnomAD |
|
|
rs749744373 CA2641409 |
290 | Y>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 294 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1576375000 CA354757740 |
295 | I>T | No |
ClinGen Ensembl |
|
|
rs1247147517 CA354757714 |
297 | V>I | No |
ClinGen TOPMed |
|
|
CA2641390 rs745412053 |
301 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs140546379 CA83976574 |
301 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA354757522 rs1576374857 |
303 | E>D | No |
ClinGen Ensembl |
|
|
CA354757509 rs1267368148 |
304 | P>R | No |
ClinGen TOPMed |
|
|
CA354757512 rs1320195513 |
304 | P>S | No |
ClinGen gnomAD |
|
|
CA354757481 rs1449027670 |
306 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA354757381 rs1326979199 |
310 | A>T | No |
ClinGen TOPMed |
|
|
rs1210431314 CA354757310 |
313 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 314 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748708144 CA2641387 |
320 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA354757092 rs1169084975 |
321 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA354756912 rs1245634961 |
330 | M>V | No |
ClinGen gnomAD |
|
|
rs1185637863 CA354756849 |
332 | D>V | No |
ClinGen gnomAD |
|
|
CA354756811 rs1208235549 |
334 | E>G | No |
ClinGen TOPMed |
|
|
CA83976530 rs1039812990 |
335 | I>V | No |
ClinGen TOPMed |
|
|
rs372480805 CA83976506 |
336 | K>N | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 337 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1385789007 CA354756701 |
339 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs758466950 CA2641382 |
339 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 340 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354756581 rs1473853488 |
344 | A>V | No |
ClinGen TOPMed |
|
|
CA2641380 rs144633885 |
345 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354756528 rs1296953158 |
347 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA2641379 rs757247495 |
351 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2641378 rs753830878 |
352 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs763891663 CA2641377 |
353 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs760407989 CA2641376 |
357 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1374601138 CA354756257 |
358 | I>M | No |
ClinGen gnomAD |
|
|
CA2641375 rs775167003 |
359 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
COSM1693517 rs1431543241 CA354756176 |
362 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1169141806 CA354756100 |
365 | R>W | No |
ClinGen gnomAD |
|
|
CA83975811 rs895526419 |
376 | I>S | No |
ClinGen TOPMed |
|
|
CA354755483 rs1263754828 |
376 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs769015054 CA2641349 |
378 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1560017210 CA354755412 |
379 | T>I | No |
ClinGen Ensembl |
|
|
rs1270206351 CA354755366 |
381 | M>V | No |
ClinGen gnomAD |
|
|
rs1333745839 CA354755274 |
385 | N>H | No |
ClinGen gnomAD |
|
| TCGA novel | 387 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 388 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1306253311 CA354755195 |
388 | F>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 390 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354755170 rs1387277779 |
390 | S>P | No |
ClinGen gnomAD |
|
|
CA2641348 rs761294157 |
394 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA354755052 rs904778583 |
398 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA354755055 rs1388957549 |
398 | H>R | No |
ClinGen gnomAD |
|
|
CA83975792 rs946253585 |
400 | S>F | No |
ClinGen Ensembl |
|
|
rs1043217697 CA83975798 |
400 | S>P | No |
ClinGen Ensembl |
|
|
CA2641347 rs775705582 |
402 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354754634 rs1200859815 |
403 | Y>C | No |
ClinGen gnomAD |
|
|
rs1200859815 CA354754632 |
403 | Y>F | No |
ClinGen gnomAD |
|
|
CA354754638 rs1560016316 |
403 | Y>H | No |
ClinGen Ensembl |
|
|
CA354754598 rs1484081962 |
405 | I>M | No |
ClinGen gnomAD |
|
|
CA354754563 rs1560016304 |
407 | E>A | No |
ClinGen Ensembl |
|
|
CA2641327 rs761083743 |
409 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA83974484 rs371607811 |
412 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs776069210 CA354754459 |
413 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA2641325 rs772516072 |
414 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA354754449 rs1187774092 |
414 | I>T | No |
ClinGen gnomAD |
|
|
CA2641324 rs760009051 |
415 | F>I | No |
ClinGen ExAC |
|
|
rs774894478 CA2641323 |
423 | S>P | No |
ClinGen ExAC |
|
|
CA2641322 rs771254409 |
425 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA354754298 rs1325493180 |
427 | D>E | No |
ClinGen gnomAD |
|
|
CA354754280 rs1373994963 |
430 | A>G | No |
ClinGen gnomAD |
|
|
CA2641320 rs777707851 |
430 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA2641319 rs769917246 |
432 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA354754255 rs1366505184 |
432 | S>I | No |
ClinGen TOPMed |
|
| TCGA novel | 433 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779822252 CA354754236 |
435 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2641293 rs779822252 |
435 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745454371 CA2641291 |
436 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354754222 rs1229424885 |
437 | F>C | No |
ClinGen gnomAD |
|
|
CA354754213 rs1576373023 |
438 | L>F | No |
ClinGen Ensembl |
|
|
rs77515295 CA83974225 |
439 | L>F | No |
ClinGen gnomAD |
|
|
rs756899059 CA354754212 |
439 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354754196 rs1331808890 |
441 | V>A | No |
ClinGen gnomAD |
|
|
CA354754195 rs1331808890 |
441 | V>G | No |
ClinGen gnomAD |
|
|
rs753373662 CA2641288 |
442 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA2641287 rs143162367 |
446 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755534435 CA2641286 |
448 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217099698 CA354754150 |
449 | F>L | No |
ClinGen TOPMed |
|
|
CA2641284 rs766591312 |
450 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1245875517 CA354754143 |
450 | Y>N | No |
ClinGen TOPMed |
|
|
CA354754136 rs1576372997 |
451 | D>N | No |
ClinGen Ensembl |
|
|
CA354754116 rs1576372994 |
453 | D>G | No |
ClinGen Ensembl |
|
|
CA354754118 rs1409883884 |
453 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 455 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1156805151 CA354754092 |
456 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1247149216 CA354754077 |
458 | I>M | No |
ClinGen gnomAD |
|
|
rs1469576869 CA354754079 |
458 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1022723393 CA83974183 |
459 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2641283 rs369668961 |
461 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA83974178 rs11545277 |
462 | E>D | No |
ClinGen Ensembl |
|
| TCGA novel | 462 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2641282 rs773269860 |
464 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA2641279 rs199631542 |
467 | H>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2641281 rs765470122 |
467 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA2641280 rs199631542 |
467 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354753940 rs1281409559 |
470 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA354753909 rs1427010803 |
472 | D>E | No |
ClinGen gnomAD |
|
|
rs1232736701 CA354753883 |
474 | G>E | No |
ClinGen gnomAD |
|
|
CA354753870 rs1347322165 |
475 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2641264 rs527371713 |
480 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs377228965 CA2641263 |
484 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA354753761 rs1257077840 |
489 | K>Q | No |
ClinGen TOPMed |
|
|
rs764103850 CA2641260 |
490 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs200726141 CA2641259 |
492 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772024352 CA2641257 |
498 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2641256 rs759447429 |
501 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs772562874 CA2641254 |
502 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777586314 CA2641252 |
503 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354753670 rs1192633875 |
503 | E>K | No |
ClinGen TOPMed |
|
|
rs769385558 CA2641251 |
504 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2641250 rs376845298 |
506 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 509 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372003421 CA354753621 |
510 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372003421 CA2641249 |
510 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2641248 rs758933184 |
511 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1203321330 CA354753611 |
512 | D>N | No |
ClinGen gnomAD |
|
|
rs187748619 CA2641247 |
512 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs185591728 CA354753602 |
513 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2641245 rs185591728 |
513 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2641246 rs779272027 |
513 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2641227 rs746330302 |
522 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162323799 CA354753520 |
523 | I>T | No |
ClinGen gnomAD |
|
|
rs779309997 CA2641226 |
524 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161992243 CA354753490 |
528 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
COSM1039106 rs1250342666 CA354753461 |
532 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs778168278 CA2641223 |
533 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 534 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1360666960 CA354753428 |
536 | Y>F | No |
ClinGen gnomAD |
|
|
CA354753418 rs1560014851 |
538 | S>G | No |
ClinGen Ensembl |
|
|
rs1287969784 CA354753384 |
543 | L>I | No |
ClinGen TOPMed |
|
|
CA354753372 rs1213266400 |
544 | N>I | No |
ClinGen gnomAD |
|
|
CA2641219 rs755030372 |
551 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA354753305 rs1315089654 |
554 | I>T | No |
ClinGen gnomAD |
|
|
CA2641218 rs751471913 |
554 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1306141881 CA354753296 |
556 | H>D | No |
ClinGen gnomAD |
|
|
CA354753295 rs1306141881 |
556 | H>Y | No |
ClinGen gnomAD |
|
|
rs1553776953 CA354753275 |
558 | D>E | No |
ClinGen Ensembl |
|
|
rs1553776954 CA354753277 |
558 | D>V | No |
ClinGen Ensembl |
|
|
rs767902278 CA2641203 |
560 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs186922212 CA2641201 |
561 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2641200 rs755266006 |
562 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354752674 rs1326693140 |
562 | Y>H | No |
ClinGen gnomAD |
|
|
CA354752659 rs1472937298 |
563 | L>V | No |
ClinGen gnomAD |
|
|
rs1467232219 CA354752588 |
568 | P>L | No |
ClinGen TOPMed |
|
|
CA2641198 rs148644997 |
568 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354752581 rs1254205496 |
569 | K>E | No |
ClinGen TOPMed |
|
|
rs1437110525 CA354752549 |
570 | D>E | No |
ClinGen gnomAD |
|
|
rs1374115273 CA354752542 |
571 | N>S | No |
ClinGen gnomAD |
|
|
CA354752534 rs1180214480 |
572 | R>G | No |
ClinGen gnomAD |
|
|
rs750395123 CA354752518 |
573 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750395123 CA2641196 COSM3365016 |
573 | L>V | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA354752362 rs1238411636 |
584 | S>R | No |
ClinGen gnomAD |
|
|
CA354752368 rs1375048576 |
584 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1191259208 CA354752358 |
585 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 588 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2641194 rs761535819 |
592 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 596 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 597 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1209909986 CA354752271 |
599 | M>L | No |
ClinGen gnomAD |
|
|
rs572382622 CA354752269 |
599 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA83972639 rs572382622 |
599 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs760431614 CA2641191 |
600 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354752265 rs763624564 |
600 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354752237 rs1277688263 |
604 | S>G | No |
ClinGen TOPMed |
|
|
rs1224786328 CA354752215 |
607 | D>N | No |
ClinGen gnomAD |
|
|
CA354752196 rs1326271561 |
609 | V>D | No |
ClinGen gnomAD |
|
|
CA354752188 rs1294305393 |
610 | L>P | No |
ClinGen gnomAD |
|
|
CA354752182 rs1329164747 |
611 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA354752167 rs1354138023 |
614 | P>A | No |
ClinGen gnomAD |
|
|
rs1224103167 CA354752145 |
617 | Q>* | No |
ClinGen TOPMed |
|
|
CA354752077 rs1410640940 |
626 | E>D | No |
ClinGen gnomAD |
|
|
CA354752063 rs1292964176 |
628 | Q>R | No |
ClinGen TOPMed |
|
|
CA83998537 rs113303328 |
629 | G>S | No |
ClinGen Ensembl |
|
|
CA354770028 rs1162650765 |
631 | K>R | No |
ClinGen gnomAD |
|
|
CA354770018 rs1234470298 |
632 | Q>* | No |
ClinGen gnomAD |
|
|
CA354769975 rs138037779 |
636 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2641169 rs138037779 |
636 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1467459280 CA354769965 |
637 | V>A | No |
ClinGen gnomAD |
|
|
CA2641167 rs528065676 |
637 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752359547 CA2641166 |
638 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA2641165 rs142305414 |
639 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 640 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA83998527 rs893380414 |
641 | P>S | No |
ClinGen Ensembl |
|
|
rs773888231 CA2641163 |
644 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764099279 COSM1039104 CA83998524 |
644 | R>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1169198592 CA354769885 |
645 | F>S | No |
ClinGen TOPMed |
|
|
CA354769878 rs1238489331 |
646 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA83998521 rs765306875 |
649 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2641162 rs765306875 |
649 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2641161 rs762444070 |
650 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354769835 rs762444070 |
650 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2641160 rs374048993 |
655 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs779239712 CA2641159 |
656 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410134612 CA354769727 |
659 | Q>H | No |
ClinGen gnomAD |
|
|
CA2641157 rs780446707 |
662 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs545960339 CA2641155 |
663 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1245330893 CA354769586 |
666 | S>L | No |
ClinGen TOPMed |
|
|
CA354769582 rs1476633028 |
667 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs369565965 CA2641145 |
668 | Q>E | No |
ClinGen ESP ExAC |
|
|
rs765983959 CA2641144 |
676 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354769470 rs1323020493 |
676 | L>P | No |
ClinGen gnomAD |
|
|
CA2641143 rs377734699 |
679 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1208849148 CA354769369 |
686 | A>T | No |
ClinGen gnomAD |
|
|
rs935330619 CA83998191 |
691 | H>N | No |
ClinGen TOPMed |
|
|
rs777212739 CA2641142 |
691 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA2641139 rs776037503 |
702 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA354769185 rs1399118288 |
703 | A>P | No |
ClinGen gnomAD |
|
|
rs748398802 CA83998167 |
708 | N>H | No |
ClinGen Ensembl |
|
|
CA2641135 rs771055699 |
712 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA354769060 rs1560012654 |
714 | K>N | No |
ClinGen Ensembl |
|
|
CA354769026 rs1411314995 |
718 | G>D | No |
ClinGen gnomAD |
|
|
rs749130594 CA2641134 |
719 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756081148 CA2641132 |
722 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs201087921 CA83998152 |
722 | D>N | No |
ClinGen 1000Genomes |
|
|
rs561119379 CA2641131 |
724 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2641130 rs540969150 |
726 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA83998137 rs7374710 |
727 | V>G | No |
ClinGen Ensembl |
|
|
CA354768934 rs1482999276 |
727 | V>M | No |
ClinGen gnomAD |
|
|
rs1396883848 CA354768923 |
728 | A>S | No |
ClinGen TOPMed |
|
|
CA354768915 rs1295048908 |
728 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 729 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 733 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354768830 rs1306012348 |
735 | Q>* | No |
ClinGen gnomAD |
|
|
rs1257605544 CA354768816 |
736 | G>V | No |
ClinGen gnomAD |
|
|
rs1576369487 CA354768807 |
737 | K>T | No |
ClinGen Ensembl |
|
|
CA354768104 rs1321081296 |
740 | A>T | No |
ClinGen gnomAD |
|
|
CA354768021 rs1225018429 |
747 | R>G | No |
ClinGen gnomAD |
|
|
rs1370532810 CA354768017 |
747 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs745421557 CA83997578 |
748 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs146231946 CA2641113 |
750 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2641114 rs773210109 |
750 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs748147974 CA2641112 |
752 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2641111 rs558372234 |
756 | F>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs558372234 CA354767936 |
756 | F>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs141870357 CA2641110 |
757 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs898908400 CA83997533 |
758 | A>D | No |
ClinGen Ensembl |
|
|
rs779790878 CA2641109 |
759 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2641107 rs376670841 |
759 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 761 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA83997519 rs371340545 |
762 | L>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs984851094 CA83997516 |
763 | P>L | No |
ClinGen TOPMed |
|
|
CA354767849 rs1162617125 |
764 | S>N | No |
ClinGen TOPMed |
|
|
CA354767858 rs1488022814 |
764 | S>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 765 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA83997513 rs907499847 |
765 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2641103 rs199750374 |
767 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767943293 CA2641102 |
767 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354767824 rs199750374 |
767 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354767759 rs1169489716 |
769 | V>A | No |
ClinGen gnomAD |
|
|
CA2641077 rs768901535 |
769 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2641075 rs750626785 |
770 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486397912 CA354767742 |
771 | K>R | No |
ClinGen gnomAD |
|
|
CA354767713 rs1253482681 |
773 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA354767706 rs1199326532 |
774 | R>K | No |
ClinGen gnomAD |
|
|
rs992195371 CA83997418 |
775 | E>D | No |
ClinGen Ensembl |
|
|
CA2641074 rs765254440 |
775 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1339700495 CA354767699 |
775 | E>Q | No |
ClinGen gnomAD |
|
|
rs761916718 CA2641073 |
776 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs776736323 CA2641072 |
777 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 778 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 780 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1235691076 CA354767649 |
781 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 781 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760587896 CA2641070 |
781 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1576368421 CA354767636 |
782 | Q>H | No |
ClinGen Ensembl |
|
|
rs775351795 CA2641069 |
784 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2641068 rs374583997 |
786 | E>G | No |
ClinGen ESP ExAC |
|
|
CA354767590 rs1486329824 |
790 | D>H | No |
ClinGen TOPMed |
|
|
CA2641067 rs745473542 |
791 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs138744497 CA2641066 |
792 | T>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1463927933 CA354767567 |
793 | E>D | No |
ClinGen gnomAD |
|
|
rs1178799538 CA354767561 |
794 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA354767530 rs1165310160 |
798 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA354767521 rs1476150969 |
798 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 798 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354767515 rs1366608838 |
799 | P>S | No |
ClinGen gnomAD |
|
|
CA354767508 rs1186260087 |
800 | G>R | No |
ClinGen gnomAD |
|
|
CA2641063 rs372129792 |
806 | V>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs201811724 CA2641064 |
806 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755502155 CA2641062 |
808 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780380900 CA83997371 |
809 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2641061 rs780380900 |
809 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs780410915 CA2641060 |
810 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1553776105 CA354767369 |
812 | K>N | No |
ClinGen Ensembl |
|
|
rs758715374 CA2641059 |
813 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2641057 rs765417878 |
815 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2641058 rs750607083 |
815 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs762072047 CA2641056 |
817 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs760596735 CA2641053 CA2641054 |
819 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 823 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354767239 rs1326374443 |
825 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 826 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2641052 rs775309413 |
827 | V>L | No |
ClinGen ExAC gnomAD |
|
| rs1162553959 | 828 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2641051 rs771858891 COSM1642105 |
828 | T>M | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs372847447 CA83997351 |
828 | T>P | No |
ClinGen Ensembl |
|
|
CA354767071 rs878866328 |
832 | E>D | No |
ClinGen gnomAD |
|
|
CA83997286 rs1033683436 |
833 | R>S | No |
ClinGen TOPMed |
|
| TCGA novel | 835 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769310909 COSM368853 CA2641023 |
836 | M>I | lung breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 836 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 839 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354766972 rs1342344055 |
840 | K>R | No |
ClinGen gnomAD |
|
|
rs747584226 CA2641022 |
841 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2641020 rs772444645 |
843 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs776257267 CA2641021 |
843 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1168880891 CA354766894 |
848 | T>A | No |
ClinGen gnomAD |
|
|
rs138135248 CA2641017 |
848 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749470772 CA2641016 |
849 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA354766852 rs1486073301 |
851 | Q>H | No |
ClinGen gnomAD |
|
|
CA354766784 rs1397596479 |
852 | E>K | No |
ClinGen gnomAD |
|
|
rs750171651 CA2640988 |
853 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2640987 COSM74236 rs560518160 CA83997009 |
855 | G>R | Variant assessed as Somatic; 0.0 impact. ovary large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs753544849 CA2640984 |
857 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs546968520 CA2640985 |
857 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs546968520 CA354766729 |
857 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA83996999 rs908537908 |
858 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1269973081 CA354766701 |
860 | P>H | No |
ClinGen TOPMed |
|
|
rs1560011045 CA354766682 |
862 | P>A | No |
ClinGen Ensembl |
|
|
CA2640981 rs373188252 |
862 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763580163 CA2640978 |
864 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2640979 rs148124374 |
864 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 864 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773382226 CA2640977 |
865 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA354766635 rs1320984003 |
866 | A>G | No |
ClinGen gnomAD |
|
|
rs770207295 CA2640976 |
867 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA354766634 rs1396929364 |
867 | S>T | No |
ClinGen gnomAD |
|
|
CA83996978 rs962193627 |
868 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs748267257 CA354766578 |
871 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs923104167 CA83996975 |
871 | N>S | No |
ClinGen Ensembl |
|
|
rs1560010986 CA354766547 |
873 | E>A | No |
ClinGen Ensembl |
|
|
rs1442183493 CA354766537 |
873 | E>D | No |
ClinGen gnomAD |
|
|
CA2640951 rs775648950 |
876 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1195732581 CA354766392 |
878 | L>I | No |
ClinGen gnomAD |
|
|
CA354766367 rs1576367545 |
879 | E>A | No |
ClinGen Ensembl |
|
|
CA354766359 rs1200490049 |
879 | E>D | No |
ClinGen gnomAD |
|
|
CA2640949 rs745747191 |
879 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1372691849 CA354766329 |
881 | E>V | No |
ClinGen TOPMed |
|
|
rs1305668461 CA354766317 |
882 | V>E | No |
ClinGen TOPMed |
|
|
rs778943754 CA2640948 |
882 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778943754 CA354766321 |
882 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354766287 rs1253860515 |
884 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 891 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1333967219 CA354766144 |
892 | I>T | No |
ClinGen TOPMed |
|
|
rs538584623 CA83996859 |
892 | I>V | No |
ClinGen Ensembl |
|
|
CA2640946 rs749065849 |
894 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755693224 CA2640944 |
896 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs777607354 CA2640945 |
896 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA354766079 rs1334970346 |
897 | I>N | No |
ClinGen gnomAD |
|
|
rs752359634 CA2640943 |
898 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1400398941 CA354766057 |
899 | L>P | No |
ClinGen gnomAD |
|
|
CA354766038 rs1576367493 |
901 | E>K | No |
ClinGen Ensembl |
|
|
CA354766007 rs1348663778 |
903 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA354766009 rs1348663778 |
903 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA354765990 rs143708326 |
905 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2640941 rs143708326 |
905 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
1 associated diseases with P35606
[MIM: 617800]: Microcephaly 19, primary, autosomal recessive (MCPH19)
A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH19 affected individuals manifest severe developmental delay, failure to thrive, cortical blindness, and spasticity. Brain imaging show a simplified gyral pattern, thin corpus callosum, slight ventricular dilation, and delayed myelination. {ECO:0000269|PubMed:29036432}. Note=The disease may be caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH19 affected individuals manifest severe developmental delay, failure to thrive, cortical blindness, and spasticity. Brain imaging show a simplified gyral pattern, thin corpus callosum, slight ventricular dilation, and delayed myelination. {ECO:0000269|PubMed:29036432}. Note=The disease may be caused by variants affecting the gene represented in this entry.
7 regional properties for P35606
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | WD40 repeat | 4 - 85 | IPR001680-1 |
| repeat | WD40 repeat | 88 - 127 | IPR001680-2 |
| repeat | WD40 repeat | 131 - 266 | IPR001680-3 |
| domain | Coatomer, WD associated region | 319 - 762 | IPR006692 |
| repeat | G-protein beta WD-40 repeat | 158 - 172 | IPR020472-1 |
| repeat | G-protein beta WD-40 repeat | 202 - 216 | IPR020472-2 |
| repeat | G-protein beta WD-40 repeat | 244 - 258 | IPR020472-3 |
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| COPI vesicle coat | One of two multimeric complexes that forms a membrane vesicle coat. The mammalian COPI subunits are called alpha-, beta-, beta'-, gamma-, delta-, epsilon- and zeta-COP. Vesicles with COPI coats are found associated with Golgi membranes at steady state. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| transport vesicle | Any of the vesicles of the constitutive secretory pathway, which carry cargo from the endoplasmic reticulum to the Golgi, between Golgi cisternae, from the Golgi to the ER (retrograde transport) or to destinations within or outside the cell. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| structural molecule activity | The action of a molecule that contributes to the structural integrity of a complex or its assembly within or outside a cell. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| endoplasmic reticulum to Golgi vesicle-mediated transport | The directed movement of substances from the endoplasmic reticulum (ER) to the Golgi, mediated by COP II vesicles. Small COP II coated vesicles form from the ER and then fuse directly with the cis-Golgi. Larger structures are transported along microtubules to the cis-Golgi. |
| intra-Golgi vesicle-mediated transport | The directed movement of substances within the Golgi, mediated by small transport vesicles. These either fuse with the cis-Golgi or with each other to form the membrane stacks known as the cis-Golgi reticulum (network). |
| intracellular protein transport | The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. |
| retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | The directed movement of substances from the Golgi back to the endoplasmic reticulum, mediated by vesicles bearing specific protein coats such as COPI or COG. |
| toxin transport | The directed movement of a toxin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
7 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P41811 | SEC27 | Coatomer subunit beta' | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| P35605 | COPB2 | Coatomer subunit beta' | Bos taurus (Bovine) | PR |
| O62621 | beta'COP | Coatomer subunit beta' | Drosophila melanogaster (Fruit fly) | PR |
| P53621 | COPA | Coatomer subunit alpha | Homo sapiens (Human) | PR |
| O55029 | Copb2 | Coatomer subunit beta' | Mus musculus (Mouse) | PR |
| O35142 | Copb2 | Coatomer subunit beta' | Rattus norvegicus (Rat) | PR |
| Q9CAA0 | At1g79990 | Coatomer subunit beta'-1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPLRLDIKRK | LTARSDRVKS | VDLHPTEPWM | LASLYNGSVC | VWNHETQTLV | KTFEVCDLPV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RAAKFVARKN | WVVTGADDMQ | IRVFNYNTLE | RVHMFEAHSD | YIRCIAVHPT | QPFILTSSDD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MLIKLWDWDK | KWSCSQVFEG | HTHYVMQIVI | NPKDNNQFAS | ASLDRTIKVW | QLGSSSPNFT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LEGHEKGVNC | IDYYSGGDKP | YLISGADDRL | VKIWDYQNKT | CVQTLEGHAQ | NVSCASFHPE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LPIIITGSED | GTVRIWHSST | YRLESTLNYG | MERVWCVASL | RGSNNVALGY | DEGSIIVKLG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| REEPAMSMDA | NGKIIWAKHS | EVQQANLKAM | GDAEIKDGER | LPLAVKDMGS | CEIYPQTIQH |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NPNGRFVVVC | GDGEYIIYTA | MALRNKSFGS | AQEFAWAHDS | SEYAIRESNS | IVKIFKNFKE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KKSFKPDFGA | ESIYGGFLLG | VRSVNGLAFY | DWDNTELIRR | IEIQPKHIFW | SDSGELVCIA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TEESFFILKY | LSEKVLAAQE | THEGVTEDGI | EDAFEVLGEI | QEIVKTGLWV | GDCFIYTSSV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NRLNYYVGGE | IVTIAHLDRT | MYLLGYIPKD | NRLYLGDKEL | NIISYSLLVS | VLEYQTAVMR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RDFSMADKVL | PTIPKEQRTR | VAHFLEKQGF | KQQALTVSTD | PEHRFELALQ | LGELKIAYQL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| AVEAESEQKW | KQLAELAISK | CQFGLAQECL | HHAQDYGGLL | LLATASGNAN | MVNKLAEGAE |
| 730 | 740 | 750 | 760 | 770 | 780 |
| RDGKNNVAFM | SYFLQGKVDA | CLELLIRTGR | LPEAAFLART | YLPSQVSRVV | KLWRENLSKV |
| 790 | 800 | 810 | 820 | 830 | 840 |
| NQKAAESLAD | PTEYENLFPG | LKEAFVVEEW | VKETHADLWP | AKQYPLVTPN | EERNVMEEGK |
| 850 | 860 | 870 | 880 | 890 | 900 |
| DFQPSRSTAQ | QELDGKPASP | TPVIVASHTA | NKEEKSLLEL | EVDLDNLELE | DIDTTDINLD |
| EDILDD |