P08670
Gene name |
VIM |
Protein name |
Vimentin |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7431 |
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
24 structures for P08670
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1GK4 | X-ray | 230 A | A/B/C/D/E/F | 328-411 | PDB |
| 1GK6 | X-ray | 190 A | A/B | 385-412 | PDB |
| 1GK7 | X-ray | 140 A | A | 102-138 | PDB |
| 3G1E | X-ray | 183 A | A/B | 102-138 | PDB |
| 3KLT | X-ray | 270 A | A/B/C/D | 263-334 | PDB |
| 3S4R | X-ray | 245 A | A/B | 99-189 | PDB |
| 3SSU | X-ray | 260 A | A/B | 99-189 | PDB |
| 3SWK | X-ray | 170 A | A/B | 153-238 | PDB |
| 3TRT | X-ray | 230 A | A/B | 261-335 | PDB |
| 3UF1 | X-ray | 281 A | A/B/C/D | 144-251 | PDB |
| 4MCY | X-ray | 230 A | C | 66-78 | PDB |
| 4MCZ | X-ray | 241 A | C | 59-71 | PDB |
| 4MD0 | X-ray | 219 A | C | 59-71 | PDB |
| 4MD5 | X-ray | 165 A | C | 66-78 | PDB |
| 4MDI | X-ray | 200 A | C | 66-78 | PDB |
| 4MDJ | X-ray | 170 A | C | 66-78 | PDB |
| 4YPC | X-ray | 144 A | A | 161-243 | PDB |
| 4YV3 | X-ray | 200 A | A/B/C | 161-238 | PDB |
| 5WHF | X-ray | 225 A | A/B/C/D/E/F/G/H | 153-238 | PDB |
| 6ATF | X-ray | 190 A | C/F | 59-71 | PDB |
| 6ATI | X-ray | 198 A | C/F | 59-71 | PDB |
| 6BIR | X-ray | 230 A | C | 419-431 | PDB |
| 6YXK | X-ray | 200 A | C | 59-74 | PDB |
| AF-P08670-F1 | Predicted | AlphaFoldDB |
407 variants for P08670
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000203397 rs864309690 RCV000488584 |
6 | V>missing | Cataract 30 Developmental cataract [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5426364 RCV000651306 rs773938980 |
56 | S>Y | Cataract 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA214748 rs121917775 RCV000056967 RCV000012983 VAR_070100 |
151 | E>K | Cataract 30 CTRCT30; the mutation increases the proteasome activity in transfected cells; causes also a severe kinetic defect in vimentin assembly both in vitro and in vivo [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV001220959 rs1846752790 |
156 | E>D | Cataract 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000952394 rs149942621 CA5426418 |
181 | D>A | Cataract 30 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA16622109 VAR_078860 RCV000488719 rs1085307141 |
208 | Q>R | Cataract 30 CTRCT30; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV002547220 rs145152785 CA5426556 |
250 | Q>R | Cataract 30 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5426558 rs773762488 RCV001232814 |
253 | H>R | Cataract 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001195968 CA5426688 rs749084801 |
381 | R>C | Cataract 30 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1846907790 RCV001236540 |
459 | S>missing | Cataract 30 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5426330 rs756656437 |
2 | S>P | No |
ClinGen ExAC |
|
|
rs1436554874 CA376174573 |
4 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 5 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376174615 rs1230052576 |
6 | V>A | No |
ClinGen gnomAD |
|
|
CA5426333 rs755242950 |
6 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs779204525 RCV000994358 CA376174641 |
8 | S>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA376174631 rs1288770216 |
8 | S>T | No |
ClinGen gnomAD |
|
|
CA5426334 rs779204525 |
8 | S>W | No |
ClinGen ExAC gnomAD |
|
|
rs1452327776 CA376174680 |
11 | Y>C | No |
ClinGen gnomAD |
|
|
CA376174689 rs1220895620 |
12 | R>C | No |
ClinGen gnomAD |
|
|
rs1245254535 CA376174697 |
12 | R>P | No |
ClinGen gnomAD |
|
|
rs1220895620 CA376174688 |
12 | R>S | No |
ClinGen gnomAD |
|
|
rs1031859925 CA203595558 |
13 | R>S | No |
ClinGen Ensembl |
|
|
CA376174726 rs1278642875 |
14 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 15 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773471865 CA5426338 |
16 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5426339 rs747053288 |
17 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs11545549 CA203595583 |
18 | P>L | No |
ClinGen gnomAD |
|
|
rs771023210 CA5426340 |
19 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs776383614 CA5426341 |
21 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA5426342 rs776383614 |
21 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1202092452 CA376174847 |
22 | S>R | No |
ClinGen gnomAD |
|
|
rs527439944 CA203595610 |
23 | R>Q | No |
ClinGen Ensembl |
|
|
rs910563895 CA203595603 |
23 | R>W | No |
ClinGen TOPMed |
|
|
rs957631225 CA203595614 |
25 | S>R | No |
ClinGen Ensembl |
|
|
rs775343323 CA376174900 |
27 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376174904 rs1356941925 |
27 | S>N | No |
ClinGen gnomAD |
|
|
rs775343323 CA5426344 |
27 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376174906 rs1356941925 |
27 | S>T | No |
ClinGen gnomAD |
|
|
rs1194887764 CA376174916 |
28 | R>W | No |
ClinGen TOPMed |
|
|
CA5426345 rs762644216 |
31 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763707422 CA5426346 |
33 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1344328729 CA376174988 |
33 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5426348 rs756711607 |
35 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766889315 CA5426349 |
36 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754236131 CA376175027 |
36 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs754236131 CA5426350 |
36 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA5426351 rs755500924 |
41 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1382854843 CA376175124 |
42 | S>R | No |
ClinGen gnomAD |
|
|
rs748519640 CA5426353 |
43 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs758730926 CA5426354 |
43 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA376175145 rs1318337726 |
44 | L>P | No |
ClinGen TOPMed |
|
|
rs778098458 CA5426356 |
45 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs778098458 CA5426355 |
45 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1335964173 CA376175186 |
47 | S>N | No |
ClinGen gnomAD |
|
|
CA5426359 rs745851443 |
48 | T>I | No |
ClinGen ExAC |
|
|
CA5426358 rs201189169 |
48 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs769749512 CA5426360 |
49 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1312761190 CA376175216 |
49 | S>N | No |
ClinGen gnomAD |
|
|
CA376175217 rs1367516245 |
49 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 50 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs11545553 CA203595678 COSM3790665 |
50 | R>H | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs775190116 CA5426361 |
51 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1588731496 CA376175251 |
52 | L>I | No |
ClinGen Ensembl |
|
|
rs1294995968 CA376175281 |
54 | A>P | No |
ClinGen TOPMed |
|
|
CA376175291 rs1337671316 |
54 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5426362 rs762699034 |
55 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA5426363 rs768322635 |
56 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs749931833 CA5426367 |
57 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767007282 CA5426366 |
57 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1215537817 CA376175334 |
58 | G>S | No |
ClinGen Ensembl |
|
|
CA376175344 rs1564372278 |
58 | G>V | No |
ClinGen Ensembl |
|
|
CA376175360 rs1253533842 |
60 | V>M | No |
ClinGen Ensembl |
|
|
CA5426369 rs765742006 |
61 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1474263020 CA376175419 |
64 | R>H | No |
ClinGen TOPMed |
|
|
rs1402661582 CA376175440 |
65 | S>F | No |
ClinGen gnomAD |
|
|
CA376175461 rs1445952624 |
67 | A>D | No |
ClinGen TOPMed |
|
|
rs369470034 CA5426371 |
67 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5426372 rs778153530 |
68 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs928603903 CA203595706 |
69 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA376175490 rs928603903 |
69 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA376175492 rs928603903 |
69 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA376175482 rs1435968814 |
69 | R>S | No |
ClinGen gnomAD |
|
|
CA203595711 rs777756098 |
71 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA376175505 rs1235698818 |
71 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1202137863 CA376175525 |
72 | S>N | No |
ClinGen gnomAD |
|
|
rs1270633135 CA376175550 |
74 | V>M | No |
ClinGen gnomAD |
|
|
CA376175571 rs1402686254 |
75 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs757539736 CA5426375 |
75 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5426376 rs781179445 |
76 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs972743635 CA203595723 |
76 | G>R | No |
ClinGen gnomAD |
|
|
rs11545548 CA203595757 |
77 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA5426378 rs11545548 |
77 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs184701100 CA376175588 |
77 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5426377 rs184701100 |
77 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA376175602 rs1325594598 |
78 | R>Q | No |
ClinGen gnomAD |
|
|
rs865981174 CA203595765 |
78 | R>W | No |
ClinGen gnomAD |
|
|
rs867740022 CA203595767 |
81 | Q>* | No |
ClinGen Ensembl |
|
|
CA376175651 rs1413835853 |
82 | D>N | No |
ClinGen gnomAD |
|
|
CA203595769 rs1050023359 |
84 | V>L | No |
ClinGen gnomAD |
|
|
CA376175707 rs1385094399 |
85 | D>E | No |
ClinGen TOPMed |
|
|
CA5426380 rs749097460 |
85 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1324531976 CA376175712 |
86 | F>L | No |
ClinGen gnomAD |
|
|
rs1221861802 CA376175750 |
88 | L>P | No |
ClinGen gnomAD |
|
|
rs1330720517 CA376175740 |
88 | L>V | No |
ClinGen gnomAD |
|
|
rs1290632621 CA376175762 |
89 | A>V | No |
ClinGen gnomAD |
|
|
CA376175788 rs1228337366 |
91 | A>T | No |
ClinGen gnomAD |
|
|
CA376175821 rs1259476721 |
93 | N>T | No |
ClinGen gnomAD |
|
|
rs1452623960 CA376175833 |
94 | T>A | No |
ClinGen TOPMed |
|
|
CA203595779 rs868327359 |
95 | E>* | No |
ClinGen Ensembl |
|
|
CA376175849 rs1267669767 |
95 | E>A | No |
ClinGen gnomAD |
|
|
CA5426382 rs774132663 |
96 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376175897 rs529112487 |
98 | N>D | No |
ClinGen 1000Genomes gnomAD |
|
|
CA376175903 rs1253712799 |
98 | N>S | No |
ClinGen gnomAD |
|
|
rs529112487 CA203595786 |
98 | N>Y | No |
ClinGen 1000Genomes gnomAD |
|
|
CA376176010 rs1361987967 |
106 | E>* | No |
ClinGen gnomAD |
|
|
CA376176014 rs1459555504 |
106 | E>V | No |
ClinGen gnomAD |
|
|
CA203595787 rs867113544 |
107 | L>M | No |
ClinGen Ensembl |
|
|
CA376176024 rs1390058731 |
108 | Q>* | No |
ClinGen gnomAD |
|
|
CA376176026 rs1403341247 |
108 | Q>R | No |
ClinGen gnomAD |
|
|
rs534064028 CA376176056 |
112 | D>E | No |
ClinGen gnomAD |
|
|
CA5426384 rs546992824 |
112 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA376176052 rs546992824 |
112 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA376176060 rs1305547785 |
113 | R>C | No |
ClinGen gnomAD |
|
|
rs1246101455 CA376176066 |
114 | F>L | No |
ClinGen gnomAD |
|
|
rs943771920 CA203595793 |
116 | N>K | No |
ClinGen Ensembl |
|
|
rs772634201 CA5426385 |
117 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1425939424 CA376176147 |
125 | E>D | No |
ClinGen TOPMed |
|
|
CA203595794 rs565243670 |
126 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 127 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376176155 rs1483298145 |
127 | Q>K | No |
ClinGen gnomAD |
|
|
CA5426386 rs760190137 |
127 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA376176182 rs902288870 |
130 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA203595798 rs902288870 |
130 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA203595814 rs1053391219 |
131 | L>P | No |
ClinGen Ensembl |
|
|
rs1216233618 CA376176188 |
132 | L>M | No |
ClinGen gnomAD |
|
|
CA376176205 rs1045526760 |
134 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs532905834 CA5426391 |
135 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1437046531 CA376176232 |
138 | L>P | No |
ClinGen TOPMed |
|
|
rs1296829264 CA376176256 |
142 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5426392 rs757461918 |
144 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5426393 rs781436766 |
145 | R>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 146 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1243129674 CA376176296 |
148 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs750493891 CA5426394 |
148 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1245849739 CA376176299 |
149 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1281806487 CA376176317 |
151 | E>D | No |
ClinGen TOPMed |
|
|
rs141319821 CA5426395 |
152 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA203595843 rs999034093 |
153 | E>A | No |
ClinGen TOPMed |
|
|
rs779864520 CA5426396 |
154 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA376176337 rs1323790047 |
154 | M>T | No |
ClinGen TOPMed |
|
|
rs778724394 CA5426399 |
155 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5426397 rs749293841 |
155 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA5426400 rs747904058 |
156 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA376176352 rs1406458665 |
157 | L>V | No |
ClinGen TOPMed |
|
|
rs1457202484 CA376176358 |
158 | R>C | No |
ClinGen Ensembl |
|
|
CA376176359 rs1442903146 |
158 | R>H | No |
ClinGen gnomAD |
|
|
rs771651752 CA5426401 |
159 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5426403 rs746513281 |
161 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs772870142 CA5426402 |
161 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs201551781 CA5426405 |
163 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs377524590 CA5426406 |
164 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5426407 rs569704234 |
165 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774888281 CA5426408 |
166 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA5426409 rs762190767 |
167 | D>G | No |
ClinGen ExAC |
|
|
CA376176409 rs267602430 |
167 | D>H | No |
ClinGen Ensembl |
|
|
rs267602430 CA203595863 |
167 | D>N | No |
ClinGen Ensembl |
|
|
CA5426410 rs767649276 |
169 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 170 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1361960709 CA376176428 |
170 | R>S | No |
ClinGen gnomAD |
|
|
rs11545550 CA203595882 |
172 | E>Q | No |
ClinGen Ensembl |
|
|
CA5426413 rs766499205 |
173 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5426412 rs756282194 |
173 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA203595888 rs746924511 |
174 | E>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 175 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 175 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1313812412 CA376176458 |
175 | R>S | No |
ClinGen gnomAD |
|
|
rs1459941371 CA376176479 |
177 | N>K | No |
ClinGen gnomAD |
|
|
rs1262487660 CA376176478 |
177 | N>S | No |
ClinGen gnomAD |
|
|
rs1200409133 CA376176486 |
179 | A>T | No |
ClinGen TOPMed |
|
|
rs866834871 CA203595901 |
180 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1035750972 CA203595913 |
182 | I>S | No |
ClinGen Ensembl |
|
|
CA376176507 rs1434157425 |
182 | I>V | No |
ClinGen gnomAD |
|
|
CA376176516 rs1427593011 |
183 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs972689698 CA203595932 |
183 | M>L | No |
ClinGen gnomAD |
|
|
CA376176513 rs972689698 |
183 | M>V | No |
ClinGen gnomAD |
|
|
rs1459289381 CA376176522 |
184 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA376176523 rs1321743889 |
184 | R>H | No |
ClinGen gnomAD |
|
|
CA376176520 rs1459289381 |
184 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs11545551 CA203595935 |
185 | L>P | No |
ClinGen Ensembl |
|
|
rs201325757 CA5426419 |
185 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376176532 rs1588732106 |
186 | R>Q | No |
ClinGen Ensembl |
|
|
rs777297315 COSM1560852 CA5426420 |
187 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1343201036 CA376176546 |
188 | K>R | No |
ClinGen TOPMed |
|
|
CA5426474 rs373295180 |
191 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376177044 rs1334832994 |
192 | E>V | No |
ClinGen gnomAD |
|
|
rs767474660 CA5426475 |
193 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1007423361 CA203596469 |
193 | M>L | No |
ClinGen Ensembl |
|
|
rs1005304137 CA203596474 |
193 | M>T | No |
ClinGen TOPMed |
|
|
rs1228442247 CA376177077 |
194 | L>R | No |
ClinGen gnomAD |
|
|
CA376177083 rs1303380482 |
195 | Q>* | No |
ClinGen TOPMed |
|
|
rs1406182336 CA376177121 |
198 | E>K | No |
ClinGen TOPMed |
|
|
CA376177134 rs1363228886 |
199 | A>T | No |
ClinGen TOPMed |
|
|
CA5426476 rs145760831 |
200 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1037734535 CA203596490 |
200 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA376177167 rs765911800 |
201 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA5426478 rs765911800 |
201 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA376177165 rs1461281372 |
201 | N>Y | No |
ClinGen gnomAD |
|
|
rs866251474 CA203596498 |
202 | T>I | No |
ClinGen Ensembl |
|
|
CA376177188 rs1386842396 |
203 | L>V | No |
ClinGen TOPMed |
|
|
CA376177211 rs143636314 |
204 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA376178189 rs1448514100 |
209 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1455890040 CA376178217 |
211 | D>N | No |
ClinGen TOPMed |
|
|
CA5426516 rs760525619 |
212 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA5426517 rs116800063 |
212 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5426518 rs776474793 |
213 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs138235394 CA5426520 |
216 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752236825 COSM916835 CA5426521 |
217 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs762391438 CA5426522 |
217 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA376178296 rs752236825 |
217 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376178318 rs1349809735 |
219 | D>H | No |
ClinGen TOPMed |
|
|
rs1304135302 CA376178365 |
222 | R>C | No |
ClinGen TOPMed |
|
|
CA5426524 rs750994048 |
222 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA203597800 rs897144372 |
225 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA376178443 rs1301514675 |
226 | S>C | No |
ClinGen TOPMed |
|
|
CA376178457 rs1305482290 |
227 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA5426525 rs756629184 |
228 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA5426526 rs780328725 |
229 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5426527 rs754196814 |
230 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1358309285 CA376178510 |
231 | I>T | No |
ClinGen gnomAD |
|
|
CA5426528 rs755181628 |
237 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA376178637 rs1248288717 |
239 | E>D | No |
ClinGen gnomAD |
|
|
COSM538117 CA5426530 rs748255267 |
239 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA376178644 rs1399047851 |
240 | E>* | No |
ClinGen TOPMed |
|
|
rs550798765 CA5426531 |
240 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA203597865 rs992484456 |
243 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 247 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1445166789 CA376178839 |
249 | I>F | No |
ClinGen gnomAD |
|
|
rs1290316532 CA376178853 |
250 | Q>E | No |
ClinGen gnomAD |
|
|
rs776147609 CA5426557 |
252 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs761334638 CA5426560 |
253 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5426562 rs139037306 |
256 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5426564 rs753092108 COSM916836 |
257 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5426565 rs758735029 |
258 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs985623715 CA203597884 |
260 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1257540470 CA376179020 |
261 | S>A | No |
ClinGen TOPMed |
|
|
CA376179032 rs1480960201 |
261 | S>F | No |
ClinGen gnomAD |
|
|
CA203597885 rs113576905 |
266 | T>A | No |
ClinGen TOPMed |
|
|
CA376179104 rs150878383 |
266 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM916837 CA5426567 rs150878383 |
266 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA376179101 rs113576905 |
266 | T>S | No |
ClinGen TOPMed |
|
|
CA376179123 rs1402903305 |
267 | A>V | No |
ClinGen gnomAD |
|
|
rs781127817 CA5426569 |
269 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1452626097 CA376179158 |
270 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs199515026 CA5426573 |
272 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376179198 rs1175193193 |
273 | R>C | No |
ClinGen Ensembl |
|
|
CA5426574 rs371176373 |
273 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 273 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376179264 rs1232637574 |
277 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5426576 rs747619298 |
277 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1048526047 CA203597914 |
278 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA376179294 rs1285046692 |
279 | V>A | No |
ClinGen gnomAD |
|
|
rs1356703491 CA376179291 |
279 | V>L | No |
ClinGen TOPMed |
|
|
rs147133187 CA5426577 |
280 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772585290 CA5426578 |
281 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 288 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776031097 CA5426581 |
288 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1471445445 CA376179432 |
289 | E>* | No |
ClinGen gnomAD |
|
|
rs763360647 CA5426582 |
291 | Y>H | No |
ClinGen ExAC |
|
|
rs764236805 CA5426583 |
293 | S>Y | No |
ClinGen ExAC |
|
|
CA5426606 rs747735685 |
295 | F>S | Variant assessed as Somatic; 9.301e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA376179827 rs578255169 |
296 | A>S | No |
ClinGen gnomAD |
|
|
CA203598408 rs578255169 |
296 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 297 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA376179856 rs1327165886 |
300 | E>D | No |
ClinGen TOPMed |
|
|
rs144238562 CA5426607 |
300 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754861364 CA5426608 |
301 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 301 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5426609 rs778821394 |
302 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs752407631 CA5426610 |
303 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752407631 CA376179872 |
303 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs552165238 CA5426612 |
304 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758102529 CA5426611 |
304 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5426613 rs746534016 |
306 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393644707 CA376179897 |
307 | D>G | No |
ClinGen gnomAD |
|
|
rs11545546 CA203598446 |
308 | A>S | No |
ClinGen gnomAD |
|
|
CA376179902 rs11545546 |
308 | A>T | No |
ClinGen gnomAD |
|
|
CA376179907 rs1328451159 |
309 | L>V | No |
ClinGen gnomAD |
|
|
rs780835078 CA5426615 |
310 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA5426616 rs749857760 |
311 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1316382347 CA376179933 |
313 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 314 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5426617 rs769012996 |
315 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1588735455 CA376179961 |
317 | T>N | No |
ClinGen Ensembl |
|
|
rs1264296526 CA376179967 |
318 | E>A | No |
ClinGen gnomAD |
|
|
CA5426618 COSM1321432 rs371431143 |
320 | R>Q | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA376180005 rs1171701809 |
324 | Q>E | No |
ClinGen TOPMed |
|
|
rs772347590 CA5426620 |
324 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779403092 CA203598462 |
324 | Q>R | No |
ClinGen Ensembl |
|
|
CA5426621 rs773352810 |
325 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1374235575 CA376180026 |
327 | T>S | No |
ClinGen TOPMed |
|
|
rs760880333 CA5426622 |
328 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1588735491 CA376180053 |
331 | D>V | No |
ClinGen Ensembl |
|
|
rs200772352 CA203598493 |
332 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs753894774 CA5426624 |
333 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs924667179 CA203598498 |
335 | G>E | No |
ClinGen Ensembl |
|
| rs111932484 | 336 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5426656 rs778153870 |
337 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369763215 CA203598664 |
337 | N>Y | No |
ClinGen Ensembl |
|
|
CA5426657 rs747338188 |
341 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5426658 rs771168882 |
342 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5426659 rs376802470 |
342 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5426661 rs769833820 |
344 | M>I | No |
ClinGen ExAC gnomAD |
|
|
COSM258350 CA5426662 rs775627643 |
345 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA376180388 rs775627643 |
345 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5426663 rs116370722 |
345 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 346 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1049424533 CA203598685 |
347 | M>I | No |
ClinGen TOPMed |
|
|
CA5426665 rs200740172 |
351 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866598895 CA203598702 |
352 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs767278443 CA5426667 |
353 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA203598716 rs766141377 |
354 | E>A | No |
ClinGen gnomAD |
|
|
rs766141377 CA376180536 |
354 | E>G | No |
ClinGen gnomAD |
|
|
rs750107979 CA5426668 |
355 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA376180609 rs1197860827 |
359 | Q>K | No |
ClinGen gnomAD |
|
|
CA376180613 rs1261710176 |
359 | Q>R | No |
ClinGen TOPMed |
|
|
rs139818786 CA5426669 |
360 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5426670 rs765859276 |
361 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs114322672 CA5426671 |
362 | I>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs114322672 CA5426672 |
362 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5426673 rs778207118 |
363 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs751935909 CA5426674 |
364 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA203598729 rs371054027 |
364 | R>H | No |
ClinGen ESP |
|
|
CA5426676 rs781618375 |
368 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746135750 CA5426677 |
372 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746135750 CA376180802 |
372 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 372 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5426678 rs770025384 |
373 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768727457 CA5426681 |
375 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs761834421 CA5426685 |
378 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 378 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5426683 rs201530534 |
378 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs761834421 CA5426684 |
378 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760289106 CA5426687 |
379 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA376180920 rs1358822322 |
380 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA376180929 rs1218008674 |
380 | L>P | No |
ClinGen gnomAD |
|
|
CA5426689 rs35157876 |
381 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376180943 rs35157876 |
381 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376180967 rs1188442437 |
383 | Y>H | No |
ClinGen gnomAD |
|
|
rs1267792443 CA376180983 |
384 | Q>* | No |
ClinGen gnomAD |
|
|
CA5426692 rs752126893 |
386 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA376181038 rs1588736025 RCV000853405 |
387 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA376181091 rs1432057333 |
391 | M>V | No |
ClinGen gnomAD |
|
|
CA376181141 rs1258626020 |
394 | D>V | No |
ClinGen TOPMed |
|
|
CA376181162 rs1176198427 |
395 | I>M | No |
ClinGen gnomAD |
|
|
CA376181156 rs1470562734 |
395 | I>T | No |
ClinGen gnomAD |
|
|
rs1357615634 CA376181193 |
397 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 406 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 407 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1564374858 RCV000732045 CA376181342 |
408 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs750758121 CA5426695 |
409 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 410 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5426714 rs373859810 |
410 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750766626 CA5426715 |
412 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs756434736 CA5426716 |
415 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1564374995 CA376181531 |
416 | P>A | No |
ClinGen Ensembl |
|
|
CA203599064 rs11545541 |
416 | P>Q | No |
ClinGen Ensembl |
|
|
rs1276819494 CA376181544 |
417 | N>D | No |
ClinGen TOPMed |
|
|
rs1490612095 CA376181595 |
420 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1038093456 CA203599085 |
421 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5426718 rs754167157 |
422 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760767925 CA203599100 |
423 | L>M | No |
ClinGen Ensembl |
|
|
CA203599390 rs955350530 |
430 | S>A | No |
ClinGen TOPMed |
|
|
CA376181844 rs982699474 |
431 | L>I | No |
ClinGen TOPMed |
|
|
CA203599392 rs982699474 |
431 | L>V | No |
ClinGen TOPMed |
|
|
CA376181855 rs768266467 |
433 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA376181860 rs146586974 |
434 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5426750 rs146586974 |
434 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA376181874 rs1467601802 |
436 | T>A | No |
ClinGen TOPMed |
|
|
CA376181888 rs1442649286 |
438 | S>P | No |
ClinGen gnomAD |
|
|
rs1371902872 CA376181894 |
439 | K>E | No |
ClinGen TOPMed |
|
|
CA5426752 rs372394023 |
439 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs777161019 CA5426753 |
442 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA376181919 rs1424831707 |
443 | L>V | No |
ClinGen TOPMed |
|
|
CA5426756 rs753033876 |
444 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA5426755 rs765564921 |
444 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA5426757 rs763073277 |
446 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1460602699 CA376181975 |
451 | D>E | No |
ClinGen TOPMed |
|
|
CA5426760 rs757220075 |
452 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1414174359 CA376181982 |
453 | Q>* | No |
ClinGen gnomAD |
|
|
rs1414174359 CA376181983 |
453 | Q>E | No |
ClinGen gnomAD |
|
|
rs1214438836 CA376182003 |
454 | V>I | No |
ClinGen TOPMed |
|
|
CA5426787 rs779935723 |
456 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754678758 CA5426789 |
457 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA203599907 rs376668602 |
457 | E>K | No |
ClinGen ESP gnomAD |
|
|
CA5426791 rs747701399 |
458 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA376182030 rs771777895 |
458 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5426792 rs771777895 |
458 | T>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 460 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 460 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5426793 rs777412987 |
461 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA376182053 rs1158260463 |
462 | H>D | No |
ClinGen gnomAD |
|
|
rs11545543 CA203599925 |
462 | H>P | No |
ClinGen Ensembl |
|
|
rs775956508 CA5426796 |
463 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA5426795 rs372258946 |
463 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs781197884 CA203599960 |
464 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5426797 rs763181437 |
464 | D>H | No |
ClinGen ExAC gnomAD |
No associated diseases with P08670
1 regional properties for P08670
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | AP2/ERF domain | 53 - 117 | IPR001471 |
16 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| cell leading edge | The area of a motile cell closest to the direction of movement. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| intermediate filament | A cytoskeletal structure that forms a distinct elongated structure, characteristically 10 nm in diameter, that occurs in the cytoplasm of eukaryotic cells. Intermediate filaments form a fibrous system, composed of chemically heterogeneous subunits and involved in mechanically integrating the various components of the cytoplasmic space. Intermediate filaments may be divided into five chemically distinct classes: Type I, acidic keratins; Type II, basic keratins; Type III, including desmin, vimentin and others; Type IV, neurofilaments and related filaments; and Type V, lamins. |
| intermediate filament cytoskeleton | Cytoskeletal structure made from intermediate filaments, typically organized in the cytosol as an extended system that stretches from the nuclear envelope to the plasma membrane. Some intermediate filaments run parallel to the cell surface, while others traverse the cytosol; together they form an internal framework that helps support the shape and resilience of the cell. |
| microtubule organizing center | An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides. |
| nuclear matrix | The dense fibrillar network lying on the inner side of the nuclear membrane. |
| peroxisome | A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism. |
| phagocytic vesicle | A membrane-bounded intracellular vesicle that arises from the ingestion of particulate material by phagocytosis. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| polysome | A multiribosomal structure representing a linear array of ribosomes held together by messenger RNA. They represent the active complexes in cellular protein synthesis and are able to incorporate amino acids into polypeptides both in vivo and in vitro. |
| ribonucleoprotein complex | A macromolecular complex that contains both RNA and protein molecules. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| double-stranded RNA binding | Binding to double-stranded RNA. |
| identical protein binding | Binding to an identical protein or proteins. |
| keratin filament binding | Binding to a keratin filament, an intermediate filament composed of acidic and basic keratins (types I and II), typically expressed in epithelial cells. |
| molecular adaptor activity | The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way. |
| protein domain specific binding | Binding to a specific domain of a protein. |
| scaffold protein binding | Binding to a scaffold protein. Scaffold proteins are crucial regulators of many key signaling pathways. Although not strictly defined in function, they are known to interact and/or bind with multiple members of a signaling pathway, tethering them into complexes. |
| structural constituent of cytoskeleton | The action of a molecule that contributes to the structural integrity of a cytoskeletal structure. |
| structural constituent of eye lens | The action of a molecule that contributes to the structural integrity of the lens of an eye. |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| astrocyte development | The process aimed at the progression of an astrocyte over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. An astrocyte is the most abundant type of glial cell. Astrocytes provide support for neurons and regulate the environment in which they function. |
| Bergmann glial cell differentiation | The process in which neuroepithelial cells of the neural tube give rise to Brgmann glial cells, specialized bipotential progenitors cells of the cerebellum. Differentiation includes the processes involved in commitment of a cell to a specific fate. |
| cellular response to interferon-gamma | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interferon-gamma stimulus. Interferon gamma is the only member of the type II interferon found so far. |
| cellular response to lipopolysaccharide | 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 lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria. |
| cellular response to muramyl dipeptide | 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 muramyl dipeptide stimulus. Muramyl dipeptide is derived from peptidoglycan. |
| intermediate filament organization | Control of the spatial distribution of intermediate filaments; includes organizing filaments into meshworks, bundles, or other structures, as by cross-linking. |
| lens fiber cell development | The process whose specific outcome is the progression of a lens fiber cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a lens fiber cell fate. A lens fiber cell is any of the elongated, tightly packed cells that make up the bulk of the mature lens in a camera-type eye. |
| negative regulation of neuron projection development | Any process that decreases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| neuron projection development | The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| positive regulation of collagen biosynthetic process | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of collagen, any of a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. |
| positive regulation of translation | Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. |
| regulation of mRNA stability | Any process that modulates the propensity of mRNA molecules to degradation. Includes processes that both stabilize and destabilize mRNAs. |
| SMAD protein signal transduction | The cascade of processes by which a signal interacts with a receptor, causing a change in the activity of a SMAD protein, and ultimately effecting a change in the functioning of the cell. |
13 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P02545 | LMNA | Prelamin-A/C | Homo sapiens (Human) | PR |
| P17661 | DES | Desmin | Homo sapiens (Human) | PR |
| P41219 | PRPH | Peripherin | Homo sapiens (Human) | PR |
| P14136 | GFAP | Glial fibrillary acidic protein | Homo sapiens (Human) | PR |
| P14733 | Lmnb1 | Lamin-B1 | Mus musculus (Mouse) | PR |
| P48678 | Lmna | Prelamin-A/C | Mus musculus (Mouse) | PR |
| P21619 | Lmnb2 | Lamin-B2 | Mus musculus (Mouse) | PR |
| P31001 | Des | Desmin | Mus musculus (Mouse) | PR |
| P20152 | Vim | Vimentin | Mus musculus (Mouse) | PR |
| P03995 | Gfap | Glial fibrillary acidic protein | Mus musculus (Mouse) | PR |
| P70615 | Lmnb1 | Lamin-B1 | Rattus norvegicus (Rat) | PR |
| P48679 | Lmna | Prelamin-A/C | Rattus norvegicus (Rat) | PR |
| Q21065 | ifa-3 | Intermediate filament protein ifa-3 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSTRSVSSSS | YRRMFGGPGT | ASRPSSSRSY | VTTSTRTYSL | GSALRPSTSR | SLYASSPGGV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YATRSSAVRL | RSSVPGVRLL | QDSVDFSLAD | AINTEFKNTR | TNEKVELQEL | NDRFANYIDK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VRFLEQQNKI | LLAELEQLKG | QGKSRLGDLY | EEEMRELRRQ | VDQLTNDKAR | VEVERDNLAE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DIMRLREKLQ | EEMLQREEAE | NTLQSFRQDV | DNASLARLDL | ERKVESLQEE | IAFLKKLHEE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EIQELQAQIQ | EQHVQIDVDV | SKPDLTAALR | DVRQQYESVA | AKNLQEAEEW | YKSKFADLSE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AANRNNDALR | QAKQESTEYR | RQVQSLTCEV | DALKGTNESL | ERQMREMEEN | FAVEAANYQD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TIGRLQDEIQ | NMKEEMARHL | REYQDLLNVK | MALDIEIATY | RKLLEGEESR | ISLPLPNFSS |
| 430 | 440 | 450 | 460 | ||
| LNLRETNLDS | LPLVDTHSKR | TLLIKTVETR | DGQVINETSQ | HHDDLE |