P12814
SS
Gene name |
ACTN1 |
Protein name |
Alpha-actinin-1 |
Names |
Alpha-actinin cytoskeletal isoform , F-actin cross-linking protein , Non-muscle alpha-actinin-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:87 |
EC number |
|
Protein Class |
|
Descriptions
ACTN2 is a major F-actin cross-linking protein in both muscle and non-muscle cells and a major multivalent platform mediating interactions with many cytoskeletal or regulatory proteins. An interaction between the C-terminal region of ACTN2 and the Z-repeat motifs of Titin protein targets ACTN2 to the Z-disk. Full-length ACTN2 does not bind Z-repeats. ACTN2 has a region that acts as a pseudo-Z-repeat between the actin-binding domain (ABD) and the spectrin-like repeats (R1), and this region prevents ACTN2 from binding to the Z-repeat of Titin protein. This autoinhibition is relieved upon binding of the Z-disk lipid phosphatidylinositol-bisphosphate to the ABD of ACTN2.
Autoinhibitory domains (AIDs)
Target domain |
740-892 (EF-hand domain) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
No accessory elements
References
Autoinhibited structure
Activated structure
5 structures for P12814
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2EYI | X-ray | 170 A | A | 30-253 | PDB |
| 2EYN | X-ray | 180 A | A | 30-253 | PDB |
| 2N8Y | NMR | - | A | 743-892 | PDB |
| 2N8Z | NMR | - | A | 743-892 | PDB |
| AF-P12814-F1 | Predicted | AlphaFoldDB |
590 variants for P12814
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
VAR_069910 rs387907346 CA130961 RCV000034867 |
32 | Q>K | Platelet-type bleeding disorder 15 BDPLT15; the mutation dominantly affects the actin filament assembly likely resulting in abnormal cytoskeletal organization [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA130967 VAR_069911 RCV000034869 rs387907348 RCV000851589 |
46 | R>Q | Variant assessed as Somatic; impact. Platelet-type bleeding disorder 15 BDPLT15; disorganization of the actin and alpha-actinin 1 filaments [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001003914 CA7242798 RCV001265697 RCV002536611 RCV000851690 rs747559032 RCV002245646 |
46 | R>W | Platelet-type bleeding disorder 15 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000034866 RCV000852110 rs387907345 RCV002513345 VAR_069912 CA130958 |
105 | V>I | Platelet-type bleeding disorder 15 BDPLT15; the mutation dominantly affects the actin filament assembly likely resulting in abnormal cytoskeletal organization [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA130973 COSM416627 RCV000034871 VAR_069914 RCV000851847 rs387907350 |
225 | E>K | urinary_tract Platelet-type bleeding disorder 15 BDPLT15 [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1594773549 RCV001003913 RCV000824959 CA390189358 RCV000851878 |
257 | T>R | Platelet-type bleeding disorder 15 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390188545 rs1566606055 RCV001267467 |
320 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1594771270 RCV000824960 CA390188513 |
324 | K>E | Platelet-type bleeding disorder 15 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1594771236 RCV000824961 CA390188475 |
328 | V>M | Platelet-type bleeding disorder 15 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1594771224 RCV000824962 CA390188458 |
329 | Q>R | Platelet-type bleeding disorder 15 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002280890 RCV000852004 CA390187183 rs1594768482 |
394 | H>R | Platelet-type bleeding disorder 15 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1594768463 CA390187119 RCV000824963 |
398 | K>T | Platelet-type bleeding disorder 15 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002245653 RCV000852008 rs1454176065 CA390185854 |
432 | A>T | Platelet-type bleeding disorder 15 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1594760140 RCV000824964 CA390185845 |
432 | A>V | Platelet-type bleeding disorder 15 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001266907 rs1271827976 |
436 | K>E | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA390185648 rs1594760036 RCV000824965 |
450 | R>C | Platelet-type bleeding disorder 15 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA390185643 RCV000824966 rs751173836 |
450 | R>H | Variant assessed as Somatic; 0.0 impact. Platelet-type bleeding disorder 15 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1594755688 CA390182952 RCV000824967 |
622 | H>Y | Platelet-type bleeding disorder 15 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000851935 CA390182266 RCV002222628 RCV002533973 rs372031019 |
653 | I>M | Platelet-type bleeding disorder 15 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1594751825 CA390181792 RCV000824968 |
719 | Q>H | Platelet-type bleeding disorder 15 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000824968 rs1594751831 CA390181793 |
719 | Q>P | Platelet-type bleeding disorder 15 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM698860 RCV000609103 CA390181698 rs1555343284 |
734 | Q>R | lung Variant assessed as Somatic; impact. Platelet-type bleeding disorder 15 [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000852076 CA390181682 rs1594751712 RCV002245656 |
737 | T>A | Platelet-type bleeding disorder 15 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM957261 RCV000034870 rs387907349 VAR_069915 RCV001003910 CA130970 |
738 | R>W | Variant assessed as Somatic; impact. endometrium Platelet-type bleeding disorder 15 BDPLT15 [NCI-TCGA, Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA390181603 RCV000824969 rs1594751659 |
748 | M>K | Platelet-type bleeding disorder 15 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000034868 VAR_069916 CA130964 rs387907347 |
752 | R>Q | Platelet-type bleeding disorder 15 BDPLT15 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV001810014 rs192640536 RCV001270617 |
888 | G>R | Platelet-type bleeding disorder 15 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7242859 rs762231000 |
2 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 3 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390187580 rs1250457871 |
5 | D>Y | No |
ClinGen gnomAD |
|
|
rs1360179284 CA390187493 |
10 | N>S | No |
ClinGen TOPMed |
|
|
rs1247695480 CA390187445 |
11 | D>E | No |
ClinGen gnomAD |
|
|
rs1485763828 CA390187476 |
11 | D>N | No |
ClinGen gnomAD |
|
|
CA7242858 COSM1515909 rs774738700 |
13 | M>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs768904252 CA7242857 |
18 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA262890032 rs975398771 |
23 | L>R | No |
ClinGen Ensembl |
|
|
CA262890020 rs201314172 |
26 | D>G | No |
ClinGen 1000Genomes |
|
|
CA390187194 rs1381542513 |
26 | D>H | No |
ClinGen gnomAD |
|
|
CA390187124 rs1295124335 |
30 | E>* | No |
ClinGen gnomAD |
|
|
rs1402862267 CA390187112 |
30 | E>V | No |
ClinGen gnomAD |
|
|
rs768393031 CA7242802 |
38 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768393031 CA390178107 |
38 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769375482 CA7242799 |
43 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs368583570 CA390178042 |
48 | A>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs368583570 CA7242797 |
48 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs752969920 CA7242795 |
49 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436394137 CA390178030 |
50 | T>I | No |
ClinGen TOPMed |
|
|
CA262874381 rs779172207 |
52 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435606353 CA390178011 |
53 | E>G | No |
ClinGen gnomAD |
|
|
rs1346712457 CA390178006 |
54 | N>D | No |
ClinGen gnomAD |
|
|
rs754001875 CA7242793 |
55 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA7242791 rs200613938 |
56 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1407452814 CA390177964 |
59 | F>L | No |
ClinGen gnomAD |
|
|
CA7242790 rs760632603 |
59 | F>Y | No |
ClinGen ExAC |
|
|
rs750397684 CA7242789 |
60 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA262874364 rs1053046500 |
60 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA390177957 rs1323079835 |
61 | D>V | No |
ClinGen TOPMed |
|
|
rs1183489267 CA390177944 |
63 | L>P | No |
ClinGen gnomAD |
|
|
CA390177926 rs1244220127 |
66 | M>V | No |
ClinGen gnomAD |
|
|
rs1242200347 CA390177917 |
67 | L>V | No |
ClinGen TOPMed |
|
|
CA7242788 rs767336613 |
68 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7242762 rs370008804 |
76 | R>C | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7242761 rs770910449 |
76 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA7242760 rs774800534 |
78 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA390177822 rs1566638991 |
80 | P>L | No |
ClinGen Ensembl |
|
|
rs149484448 CA390177812 |
82 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 87 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs548866483 CA7242756 |
93 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1374038437 CA390177701 |
98 | D>N | No |
ClinGen Ensembl |
|
|
rs1264789261 CA390177688 |
99 | F>L | No |
ClinGen gnomAD |
|
|
RCV000852101 CA390177683 rs1594816590 |
100 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA390177671 rs1343946177 |
102 | S>N | No |
ClinGen gnomAD |
|
|
CA262871821 rs781346816 |
103 | K>Q | No |
ClinGen Ensembl |
|
|
CA262871790 rs909841889 |
109 | S>C | No |
ClinGen gnomAD |
|
|
rs764096882 CA390177624 |
110 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7242750 rs764096882 |
110 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs995441618 CA262871785 |
111 | G>R | No |
ClinGen TOPMed |
|
|
rs752533755 CA7242748 COSM1300783 |
113 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA7242735 rs781438858 |
115 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1455039528 CA390192183 |
116 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7242733 rs11557767 |
118 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157599088 CA390192136 |
122 | M>I | No |
ClinGen gnomAD |
|
|
rs1181647292 CA390192084 |
130 | I>V | No |
ClinGen gnomAD |
|
|
RCV000852118 CA390192022 rs1594803107 |
139 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs753454412 CA7242727 |
140 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA390192011 rs1259179630 |
141 | V>M | No |
ClinGen gnomAD |
|
|
CA390191975 rs1392264997 |
144 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 151 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7242696 rs748237214 |
159 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs778755566 CA7242695 |
160 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1392057611 CA390191854 |
162 | K>T | No |
ClinGen TOPMed |
|
| TCGA novel | 165 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779913497 CA7242692 |
171 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA7242691 rs755842027 |
172 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1333205766 CA390191727 |
178 | G>S | No |
ClinGen gnomAD |
|
|
rs750804200 CA7242660 |
179 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7242659 rs767916745 |
184 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1026935240 CA262870807 |
184 | H>R | No |
ClinGen Ensembl |
|
|
CA390191679 rs1268659963 |
185 | R>* | No |
ClinGen TOPMed |
|
|
CA390191680 rs1268659963 |
185 | R>G | No |
ClinGen TOPMed |
|
|
CA7242658 rs377191250 |
185 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390191674 rs1437889022 |
186 | H>Y | No |
ClinGen gnomAD |
|
|
rs764254658 CA7242656 |
187 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390191667 rs1184717892 |
187 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA390191662 rs1236104162 |
188 | P>S | No |
ClinGen gnomAD |
|
|
rs975050223 CA262870795 |
189 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs975050223 CA390191656 RCV000788582 |
189 | E>Q | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA390191638 rs1285902374 |
191 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1566626319 CA390191641 |
191 | I>V | No |
ClinGen Ensembl |
|
|
CA7242654 rs775443046 |
193 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1473002897 CA390191607 |
194 | G>E | No |
ClinGen TOPMed |
|
|
CA7242651 rs145918825 CA7242652 |
194 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA262870765 rs1043589155 |
197 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
VAR_069913 COSM957268 CA262870767 rs904887313 |
197 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
rs752756221 CA7242634 |
200 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs887115456 CA262867897 |
203 | T>K | No |
ClinGen Ensembl |
|
|
rs1340049880 CA390191127 |
206 | N>H | No |
ClinGen gnomAD |
|
|
rs759486581 CA7242632 |
207 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759486581 CA7242633 |
207 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA262867872 rs78823978 |
210 | D>H | No |
ClinGen Ensembl |
|
|
CA262867873 rs78823978 |
210 | D>Y | No |
ClinGen Ensembl |
|
|
rs770793826 CA390191070 |
211 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770793826 CA7242630 |
211 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA390191055 rs1410983239 |
212 | A>V | No |
ClinGen gnomAD |
|
|
rs772967464 CA7242628 |
215 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1594790030 RCV000852176 CA390191003 |
217 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA390190996 rs1594790025 RCV000852177 |
218 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs747727367 CA7242626 |
220 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1282309201 CA390190921 |
224 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 225 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866604513 CA262867814 |
226 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1407337275 CA390190362 |
227 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs151249499 CA7242598 |
228 | V>I | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7242599 rs151249499 |
228 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368332884 CA262866399 |
232 | R>* | No |
ClinGen ESP TOPMed |
|
|
rs868325000 CA262866393 |
232 | R>Q | No |
ClinGen gnomAD |
|
|
CA390190203 rs1594786524 |
237 | A>P | No |
ClinGen Ensembl |
|
| TCGA novel | 237 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA262866392 rs142257298 |
238 | I>L | No |
ClinGen ESP TOPMed |
|
|
rs750316190 CA390190123 |
242 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs750316190 CA7242593 |
242 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1198448744 CA390190085 |
245 | F>Y | No |
ClinGen gnomAD |
|
|
rs761658735 CA7242591 |
248 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7242565 rs773643865 |
255 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA390189346 rs1195503862 |
259 | A>V | No |
ClinGen gnomAD |
|
|
CA390189343 rs1594773528 |
260 | N>H | No |
ClinGen Ensembl |
|
|
rs774702709 CA7242562 |
261 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1261292195 CA390189335 |
261 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1566608071 CA390189322 |
263 | C>Y | No |
ClinGen Ensembl |
|
|
rs768952666 CA7242561 |
264 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390189305 rs1594773489 |
265 | V>G | No |
ClinGen Ensembl |
|
|
rs780281973 CA7242559 |
267 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA390189292 rs1220850832 |
268 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1346193760 CA390189231 |
276 | M>V | No |
ClinGen TOPMed |
|
|
rs751472888 CA390189201 |
279 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs757251685 CA7242555 |
279 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7242553 rs777737348 |
280 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777737348 CA390189200 |
280 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390188882 rs1566606424 |
289 | W>R | No |
ClinGen Ensembl |
|
|
rs775915923 CA7242524 |
290 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7242522 rs145424582 |
291 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7242523 rs145424582 |
291 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs78516994 CA7242521 |
291 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM2135364 CA7242520 rs377559061 |
292 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA390188856 rs377559061 |
292 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7242518 rs369878847 COSM1740100 |
292 | R>H | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7242519 rs377559061 |
292 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1237889261 CA390188841 |
293 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1594771473 CA390188833 |
294 | I>T | No |
ClinGen Ensembl |
|
|
CA7242517 rs772043016 |
294 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7242516 rs747970717 |
295 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1361174200 CA390188789 |
298 | E>D | No |
ClinGen gnomAD |
|
|
rs1055623690 CA262858382 |
300 | R>W | No |
ClinGen TOPMed |
|
|
rs1332404312 CA390188756 |
301 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA390188762 rs1488723977 |
301 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 302 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369304051 CA7242509 |
303 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7242510 rs371830470 |
303 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs764572294 CA7242508 |
304 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1594771377 CA390188720 |
305 | T>P | No |
ClinGen Ensembl |
|
|
CA7242507 rs758945675 |
306 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753084148 CA7242506 |
307 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1235422095 CA390188685 |
308 | A>T | No |
ClinGen gnomAD |
|
|
CA7242503 rs777046614 |
309 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA7242504 rs759951802 |
309 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA390188634 rs1352973387 |
312 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 314 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA262858344 rs979778183 |
317 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM3815174 CA7242501 rs760908092 |
317 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA390188582 rs979778183 |
317 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs374853341 CA7242500 |
320 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771989409 CA7242499 |
321 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs371828538 CA7242498 COSM1607888 |
321 | R>H | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA262858330 rs1037348428 |
323 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA7242496 COSM1559434 rs768479944 |
326 | P>S | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA7242495 rs749059853 |
327 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs780762630 CA7242491 |
334 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA7242490 rs756669755 |
335 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757323494 CA262858318 |
335 | E>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 337 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390188365 rs1264864071 |
337 | N>S | No |
ClinGen gnomAD |
|
|
CA390188350 rs1288430838 |
338 | F>L | No |
ClinGen TOPMed |
|
|
rs1306991606 CA390188344 |
339 | N>S | No |
ClinGen gnomAD |
|
|
rs1594771155 RCV001003912 CA390188331 RCV001772185 |
340 | T>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA390188308 rs1594771139 RCV000851964 |
343 | T>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1487660594 CA390188280 |
346 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1246746259 CA390188248 |
349 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7242486 rs754253059 |
350 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373706716 CA390188225 |
351 | P>L | No |
ClinGen gnomAD |
|
|
rs954983250 CA262858292 |
352 | A>P | No |
ClinGen TOPMed |
|
|
rs954983250 CA390188220 |
352 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 354 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7242483 rs750563276 |
356 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA7242482 rs767667282 |
357 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1327462308 CA390188153 |
358 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7242481 rs761766788 |
359 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7242480 rs774393179 |
359 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs762802732 CA7242478 |
361 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1298842453 CA390188112 |
361 | V>I | No |
ClinGen TOPMed |
|
|
CA7242477 rs775265124 |
362 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA7242463 rs762009231 |
363 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA262857164 rs1054373483 |
364 | I>T | No |
ClinGen gnomAD |
|
|
rs751585726 CA262857153 |
365 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751585726 CA7242462 |
365 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424417012 CA390187675 |
367 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA390187676 rs1424417012 |
367 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA390187669 rs1179212172 |
367 | A>V | No |
ClinGen gnomAD |
|
|
CA390187648 rs1236148312 |
368 | W>C | No |
ClinGen gnomAD |
|
|
CA7242461 rs764093646 |
369 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA262857149 rs936028784 |
370 | C>S | No |
ClinGen gnomAD |
|
|
CA262857145 rs977679829 |
373 | Q>H | No |
ClinGen gnomAD |
|
|
CA7242458 rs769605753 |
374 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs776405361 CA7242456 |
378 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA390187466 rs1391162669 |
379 | E>K | No |
ClinGen gnomAD |
|
|
rs746610154 CA7242454 |
380 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs770489155 CA7242455 |
380 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1178266872 CA390187294 |
387 | R>Q | No |
ClinGen TOPMed |
|
|
CA390187295 rs1594768518 RCV000851998 |
387 | R>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs749845675 CA7242451 |
391 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390187221 rs1469204138 |
392 | L>R | No |
ClinGen TOPMed |
|
|
rs375231183 CA390187133 |
397 | E>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs375231183 CA262857122 |
397 | E>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs575011573 CA7242448 |
400 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM3401431 CA7242447 rs575011573 |
400 | R>Q | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs756549401 CA7242449 |
400 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA390187070 rs1260622575 |
401 | Q>* | No |
ClinGen gnomAD |
|
|
rs1257963705 CA390187062 |
401 | Q>L | No |
ClinGen gnomAD |
|
|
rs751742619 CA7242445 |
403 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7242444 rs764176256 |
404 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758430653 CA7242443 |
405 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA262857089 rs141648695 |
406 | H>Y | No |
ClinGen ESP TOPMed |
|
|
rs765149759 CA7242441 COSM167467 |
407 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA390186958 rs1350448504 |
409 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
CA390186079 rs1212255701 |
412 | G>D | No |
ClinGen gnomAD |
|
|
CA390186923 rs1309783318 |
412 | G>S | No |
ClinGen TOPMed |
|
|
rs1453643779 CA390186053 |
414 | E>G | No |
ClinGen gnomAD |
|
|
rs1259054790 CA390186040 |
415 | A>D | No |
ClinGen gnomAD |
|
|
CA390186037 rs1259054790 |
415 | A>V | No |
ClinGen gnomAD |
|
|
CA390186035 rs1320745846 |
416 | M>V | No |
ClinGen TOPMed |
|
|
rs761473464 CA7242412 |
418 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs768154024 CA7242411 |
418 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA7242410 rs768154024 |
418 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA390185990 rs1332813719 |
420 | K>E | No |
ClinGen gnomAD |
|
|
rs960001779 CA262850911 |
421 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1440025108 CA390185962 |
422 | Y>C | No |
ClinGen gnomAD |
|
|
CA7242408 rs759624231 |
423 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747350137 CA7242406 |
425 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs758626174 CA7242404 |
427 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7242402 rs778885954 |
428 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA390185850 rs1454176065 |
432 | A>S | No |
ClinGen gnomAD |
|
|
CA390185842 rs15993 |
433 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780021502 CA7242399 |
434 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA390185812 rs1271827976 |
436 | K>Q | No |
ClinGen gnomAD |
|
|
CA390185792 rs1555344647 |
437 | H>R | No |
ClinGen Ensembl |
|
| TCGA novel | 446 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1002120537 CA262850771 |
447 | H>Q | No |
ClinGen TOPMed |
|
|
rs1010897574 CA262850770 |
448 | Q>L | No |
ClinGen TOPMed |
|
|
rs1010897574 CA390185671 |
448 | Q>R | No |
ClinGen TOPMed |
|
|
rs751173836 CA7242394 |
450 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1444291982 CA390185602 |
454 | I>T | No |
ClinGen gnomAD |
|
|
rs1566597330 CA390185588 |
455 | A>V | No |
ClinGen Ensembl |
|
|
rs138924875 CA390185583 |
456 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138924875 CA7242390 |
456 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390185574 rs1415207542 |
457 | I>V | No |
ClinGen gnomAD |
|
|
rs1171771496 CA390185505 |
462 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA262850165 rs775054427 |
463 | E>K | No |
ClinGen Ensembl |
|
|
CA7242374 rs762425067 |
466 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs764672189 CA7242372 |
469 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs761197146 CA7242371 |
470 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1308006482 CA390185104 |
471 | S>G | No |
ClinGen TOPMed |
|
|
CA7242368 rs762144250 |
474 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213576738 CA390185061 |
474 | A>V | No |
ClinGen gnomAD |
|
|
rs1290416113 CA390185058 |
475 | R>C | No |
ClinGen gnomAD |
|
|
rs774496996 CA7242367 |
475 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7242366 rs373413002 |
478 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1232862734 CA390184941 |
484 | D>N | No |
ClinGen gnomAD |
|
|
rs1232862734 CA390184938 |
484 | D>Y | No |
ClinGen gnomAD |
|
|
rs780194320 CA7242364 |
485 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA7242363 COSM1580427 rs535607678 |
485 | N>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs745831948 CA7242362 |
488 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7242361 rs147666037 |
488 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7242359 rs746802757 |
490 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs548088434 CA262850030 |
492 | K>N | No |
ClinGen Ensembl |
|
|
CA7242358 rs777367024 |
493 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1477911020 CA390184789 |
496 | A>S | No |
ClinGen gnomAD |
|
|
rs765810811 CA7242335 |
499 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765810811 CA7242334 |
499 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM278606 CA7242336 rs372651589 |
499 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA7242332 COSM172133 rs368356125 |
501 | E>K | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs113831614 CA7242331 |
506 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390184558 rs1269297556 |
507 | I>T | No |
ClinGen gnomAD |
|
|
CA7242330 rs763196036 |
511 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356868742 CA390184435 |
514 | Y>F | No |
ClinGen gnomAD |
|
|
rs776852524 CA7242326 |
517 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7242327 rs759753830 |
517 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM957263 CA7242324 rs150426921 |
519 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| TCGA novel | 520 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772995585 CA7242323 |
522 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA7242321 rs747882518 |
529 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs564524574 CA262849706 |
529 | M>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 530 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1594758038 RCV000851958 |
531 | D>EGPWS | No |
ClinVar dbSNP |
|
|
CA390184188 rs1594758046 RCV000852037 |
531 | D>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000852040 CA390184162 rs1594758027 |
534 | D>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs778605494 CA7242320 |
535 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs867333047 CA262849666 |
541 | I>M | No |
ClinGen TOPMed |
|
|
rs564548170 CA7242319 |
541 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA262849663 rs868457226 |
542 | E>* | No |
ClinGen Ensembl |
|
|
CA7242318 rs370273046 |
542 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1594757992 CA390184046 |
545 | Q>R | No |
ClinGen Ensembl |
|
|
CA390183669 rs1298211510 |
546 | G>A | No |
ClinGen gnomAD |
|
|
CA390183661 RCV000851929 rs1594756590 |
547 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1383918652 CA390183651 |
548 | T>S | No |
ClinGen gnomAD |
|
|
rs1450175194 CA390183637 |
550 | A>T | No |
ClinGen TOPMed |
|
|
CA7242302 rs768390005 |
552 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA262848766 rs768390005 |
552 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA390183571 rs1314018515 |
556 | A>T | No |
ClinGen TOPMed |
|
|
CA262848760 rs995103995 COSM1562567 |
556 | A>V | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1594756535 CA390183561 |
557 | T>P | No |
ClinGen Ensembl |
|
|
CA390183547 rs1594756527 |
558 | L>P | No |
ClinGen Ensembl |
|
|
rs1354161554 CA390183522 |
561 | A>T | No |
ClinGen TOPMed |
|
|
rs1348595000 CA390183501 |
562 | D>E | No |
ClinGen TOPMed |
|
|
CA262848732 rs147824601 |
562 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA390183493 rs1430863814 |
563 | K>R | No |
ClinGen gnomAD |
|
|
rs745353238 CA7242298 |
565 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758830672 CA7242297 |
565 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs758830672 CA7242296 |
565 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1275385398 CA390183441 |
568 | I>M | No |
ClinGen gnomAD |
|
|
CA262848666 rs377453106 |
568 | I>V | No |
ClinGen ESP |
|
|
rs201198540 CA7242295 |
569 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201198540 CA390183435 |
569 | L>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1594756416 CA390183425 |
570 | G>A | No |
ClinGen Ensembl |
|
|
CA390183432 rs1257111511 |
570 | G>S | No |
ClinGen TOPMed |
|
|
rs916279997 CA262848630 |
575 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 579 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390183328 rs1160939606 |
579 | V>L | No |
ClinGen TOPMed |
|
|
rs754166842 CA7242291 |
581 | T>I | No |
ClinGen ExAC |
|
|
CA390183304 rs1594756362 |
581 | T>P | No |
ClinGen Ensembl |
|
|
rs766497394 CA7242290 |
583 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs750475462 COSM1607887 CA7242288 |
584 | V>I | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs907173601 CA262848597 |
585 | N>T | No |
ClinGen Ensembl |
|
|
CA390183237 rs1168613986 |
586 | M>I | No |
ClinGen gnomAD |
|
|
CA7242287 rs767579148 |
586 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1045728006 CA262848576 |
587 | A>T | No |
ClinGen gnomAD |
|
|
rs555037578 CA7242286 |
587 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390183214 rs1594756295 |
589 | T>P | No |
ClinGen Ensembl |
|
|
RCV001003911 rs867564562 CA262848545 RCV000851719 |
590 | N>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs762709684 CA7242283 |
590 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs775271640 CA390183184 |
592 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs775271640 CA7242282 |
592 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA390183157 rs1467792148 |
594 | T>I | No |
ClinGen gnomAD |
|
|
CA390183142 rs1566593973 |
596 | T>A | No |
ClinGen Ensembl |
|
|
CA7242281 rs769325974 |
596 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390183103 rs1250211623 |
600 | I>M | No |
ClinGen gnomAD |
|
|
rs1233889942 CA390183098 |
601 | N>S | No |
ClinGen gnomAD |
|
|
CA7242277 rs748706936 |
602 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 602 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7242278 rs748706936 |
602 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390183080 rs1594756203 |
604 | W>G | No |
ClinGen Ensembl |
|
| rs1377316508 | 606 | H>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368902712 CA7242256 |
608 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA390183039 rs1468329163 |
608 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs780306499 CA390183008 |
613 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780306499 CA7242254 |
613 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390183010 rs1254713171 |
613 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA390182976 rs1418400518 |
618 | L>V | No |
ClinGen TOPMed |
|
|
rs202125007 CA7242253 |
619 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202125007 CA7242252 |
619 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs557010913 CA262848224 |
619 | T>S | No |
ClinGen Ensembl |
|
|
COSM470165 rs868013490 CA262848161 |
623 | A>V | kidney [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 625 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373084944 CA7242250 |
632 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs373084944 CA7242249 |
632 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758344433 CA7242247 |
635 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA390182859 rs758344433 |
635 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA390182844 rs1433025290 |
638 | Q>E | No |
ClinGen TOPMed |
|
|
rs1414784144 CA390182830 |
640 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA390182824 rs1346290355 |
640 | N>K | No |
ClinGen gnomAD |
|
|
rs1414784144 CA390182829 |
640 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs753493094 CA7242243 |
643 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753493094 CA7242244 |
643 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390182790 rs1287404776 |
645 | W>R | No |
ClinGen TOPMed |
|
|
CA390182743 rs1165226004 |
648 | T>I | No |
ClinGen gnomAD |
|
|
CA262848021 rs200299278 |
650 | M>I | No |
ClinGen Ensembl |
|
|
rs1256134323 CA390182265 |
654 | G>R | No |
ClinGen TOPMed |
|
|
CA7242204 rs145122418 |
658 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7242205 rs753782840 |
658 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA390182220 rs1409360640 |
660 | M>I | No |
ClinGen gnomAD |
|
|
CA390182213 rs1325548441 |
661 | H>P | No |
ClinGen gnomAD |
|
|
CA262846576 rs1042207307 |
661 | H>Y | No |
ClinGen gnomAD |
|
|
CA390182204 rs1594753377 |
663 | T>P | No |
ClinGen Ensembl |
|
|
CA390182182 rs1594753364 |
666 | D>A | No |
ClinGen Ensembl |
|
|
rs751081491 CA7242199 |
669 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA390182152 rs1190845777 |
670 | H>P | No |
ClinGen gnomAD |
|
|
rs1481045493 CA390182141 |
672 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA7242195 rs766768729 |
677 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7242192 rs563771485 |
679 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs563771485 CA7242193 |
679 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390182072 rs748260987 |
681 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA390182075 rs1175921002 |
681 | Y>C | No |
ClinGen gnomAD |
|
|
rs1300937821 CA390182077 |
681 | Y>H | No |
ClinGen gnomAD |
|
|
CA390182047 rs1348734120 |
685 | I>F | No |
ClinGen TOPMed |
|
|
rs1408650458 CA390182043 |
685 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1295993152 CA390182045 |
685 | I>T | No |
ClinGen gnomAD |
|
|
CA390182030 rs1594753221 |
687 | Q>R | No |
ClinGen Ensembl |
|
|
CA7242188 rs763573834 |
691 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA390181988 rs1376863160 |
693 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7242187 rs780115426 |
694 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs756028713 CA7242186 |
697 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1258244969 CA390181930 |
702 | D>N | No |
ClinGen gnomAD |
|
|
CA7242182 rs751123192 |
703 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390181919 rs751123192 |
703 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7242181 rs763688743 |
704 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7242179 rs373795472 |
706 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs7157661 CA390181892 |
707 | N>S | No |
ClinGen TOPMed |
|
|
CA262846421 VAR_053883 rs7157661 |
707 | N>T | No |
ClinGen UniProt TOPMed dbSNP |
|
|
rs1197821412 CA390181879 |
709 | T>A | No |
ClinGen TOPMed |
|
|
COSM1580425 rs188284396 CA7242178 |
709 | T>I | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA262845665 rs913554480 |
714 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA390181829 rs1383792017 |
714 | R>H | No |
ClinGen gnomAD |
|
|
CA7242156 rs762065078 |
716 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1319636314 CA390181814 |
717 | W>R | No |
ClinGen gnomAD |
|
|
CA390181802 rs1456966699 |
718 | E>G | No |
ClinGen gnomAD |
|
|
rs751863018 CA7242155 |
722 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA390181774 rs1594751805 |
723 | T>P | No |
ClinGen Ensembl |
|
|
rs201419872 CA7242152 COSM1370751 |
725 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA390181743 rs1183681438 |
728 | I>L | No |
ClinGen Ensembl |
|
|
CA390181738 rs1566589885 |
728 | I>T | No |
ClinGen Ensembl |
|
|
RCV001092309 CA7242150 rs759548966 |
729 | N>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA7242148 rs746777093 |
731 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs746777093 CA7242147 |
731 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA7242149 rs776400043 |
731 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456558462 CA390181717 |
732 | E>Q | No |
ClinGen TOPMed |
|
|
CA390181688 rs1254459084 |
735 | I>M | No |
ClinGen gnomAD |
|
|
RCV001092308 rs387907349 |
738 | R>G | No |
ClinVar dbSNP |
|
|
rs1364105130 CA390181659 |
740 | A>V | No |
ClinGen gnomAD |
|
|
CA262845575 rs996781920 |
746 | E>K | No |
ClinGen Ensembl |
|
|
rs747751019 CA7242144 |
747 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390181575 rs1229608128 |
751 | F>L | No |
ClinGen gnomAD |
|
|
CA7242143 rs778429716 |
752 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1594751627 CA390181547 RCV000852080 |
756 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs750990751 CA7242142 |
757 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA390181518 rs757704267 |
760 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA7242140 rs757704267 |
760 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs781540049 COSM194729 CA7242141 |
760 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1133203 CA262844725 |
761 | D>E | No |
ClinGen Ensembl |
|
|
CA390181490 rs1363986317 |
763 | S>F | No |
ClinGen gnomAD |
|
|
rs1133204 CA262844723 |
763 | S>T | No |
ClinGen Ensembl |
|
|
rs1471335464 CA390181487 |
764 | G>S | No |
ClinGen gnomAD |
|
|
rs1133209 CA262844717 |
765 | T>I | No |
ClinGen Ensembl |
|
|
CA262844716 rs1133211 |
767 | G>D | No |
ClinGen Ensembl |
|
|
rs1140976 CA262844701 |
768 | P>H | No |
ClinGen Ensembl |
|
|
rs1566588502 CA390181464 |
768 | P>S | No |
ClinGen Ensembl |
|
|
rs1054224 CA262844689 |
769 | E>D | No |
ClinGen TOPMed |
|
|
rs1258108178 CA390181460 |
769 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1054225 CA262844667 |
770 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA262844662 rs3209198 |
772 | K>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 774 | C>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390181424 rs1486610432 |
774 | C>Y | No |
ClinGen gnomAD |
|
|
CA7242121 rs779546942 |
775 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1594749745 CA390181398 |
778 | L>F | No |
ClinGen Ensembl |
|
|
rs1344633519 CA390181373 |
782 | I>V | No |
ClinGen gnomAD |
|
|
rs541568381 CA7242119 |
784 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7242117 rs555344398 |
785 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs555365876 CA262842769 |
790 | A>G | No |
ClinGen Ensembl |
|
|
rs1327117776 CA390180775 |
790 | A>T | No |
ClinGen gnomAD |
|
|
CA390180742 rs1186689844 |
793 | A>T | No |
ClinGen TOPMed |
|
|
CA7241988 rs769440404 |
793 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1421399410 CA390180734 |
794 | R>C | No |
ClinGen TOPMed |
|
|
rs745580045 CA262842762 |
794 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745580045 CA7241987 |
794 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146368799 CA7241986 |
796 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7241984 rs751072881 |
798 | I>V | No |
ClinGen ExAC |
|
|
CA390180665 rs1594746517 |
800 | D>A | No |
ClinGen Ensembl |
|
|
CA7241983 rs777206901 |
802 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390180643 rs777206901 |
802 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000436372 rs1037154091 CA16606576 |
803 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs201193955 CA7241982 |
803 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7241980 rs766816934 |
804 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs940159315 CA262842715 |
806 | V>I | No |
ClinGen TOPMed |
|
|
CA7241979 rs760936248 |
808 | T>I | No |
ClinGen ExAC gnomAD |
|
|
COSM1580424 rs1163778679 CA390180555 |
811 | A>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 813 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750725722 CA7241978 |
813 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA390180522 rs1235582279 |
814 | D>E | No |
ClinGen gnomAD |
|
|
CA390180491 rs1594746461 |
817 | S>P | No |
ClinGen Ensembl |
|
|
CA390180479 rs1289598040 |
818 | R>H | No |
ClinGen TOPMed |
|
|
CA390180472 rs1217247611 |
819 | E>Q | No |
ClinGen TOPMed |
|
|
CA7241976 rs762071903 |
820 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 821 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768821359 CA7241974 |
822 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768821359 CA390180440 |
822 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463602841 CA390180421 |
824 | D>N | No |
ClinGen gnomAD |
|
|
CA390180403 rs1283641394 |
825 | T>R | No |
ClinGen gnomAD |
|
|
rs1803030 CA262842655 |
826 | A>S | No |
ClinGen Ensembl |
|
|
rs1235634695 CA390180376 |
828 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 828 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1229450407 CA390180370 |
829 | V>I | No |
ClinGen gnomAD |
|
|
CA390180307 rs1282833746 |
834 | K>E | No |
ClinGen gnomAD |
|
|
rs201843819 CA262842649 |
834 | K>R | No |
ClinGen 1000Genomes |
|
|
rs745643096 CA7241970 |
840 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7241915 rs758714570 |
841 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7241916 rs778223053 |
841 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs778223053 CA262840792 |
841 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA7241913 rs376070530 |
842 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7241914 rs752923320 |
842 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390179278 rs1436008180 COSM3815172 |
845 | M>T | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM1515914 CA7241910 rs766310248 |
845 | M>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA7241909 rs199707794 |
846 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7241908 rs750243442 |
847 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA7241906 rs547204209 |
849 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA7241905 rs371440985 RCV000488971 COSM1370749 |
849 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA7241902 COSM194728 rs148344567 |
850 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7241901 rs771575455 |
850 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA7241903 rs148344567 |
850 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7241900 rs747468223 |
851 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA390179220 rs1245722350 |
851 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1055860090 CA390179207 |
853 | P>A | No |
ClinGen TOPMed |
|
|
CA7241899 rs772449856 |
853 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390179205 rs772449856 |
853 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772449856 CA7241898 |
853 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1055860090 CA262840682 |
853 | P>T | No |
ClinGen TOPMed |
|
|
CA7241897 rs200346938 |
854 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1397466775 CA390179196 |
855 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA390179198 rs1413763709 |
855 | D>H | No |
ClinGen gnomAD |
|
|
CA390179185 rs367686061 |
856 | Q>P | No |
ClinGen ESP TOPMed |
|
|
rs367686061 CA262840661 |
856 | Q>R | No |
ClinGen ESP TOPMed |
|
|
CA7241894 rs753963391 |
857 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7241893 rs780057510 |
857 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1293646167 CA390179165 |
858 | E>* | No |
ClinGen gnomAD |
|
|
rs1381740422 CA390179160 |
858 | E>D | No |
ClinGen gnomAD |
|
|
CA390179167 rs1293646167 |
858 | E>K | No |
ClinGen gnomAD |
|
|
CA7241891 rs750327189 |
859 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs767345293 CA7241890 |
860 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs867352977 CA262840638 |
860 | C>Y | No |
ClinGen Ensembl |
|
|
rs761651604 CA7241889 |
861 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390179118 rs199901015 |
862 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7241888 rs199901015 |
862 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7241887 rs763814462 |
863 | R>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 863 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1371015727 CA390179098 |
864 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs769389947 CA7241885 |
865 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA7241886 rs757585091 |
865 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769389947 CA7241884 |
865 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA7241881 rs77499007 |
866 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773833507 CA7241882 |
866 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs11557769 CA7241880 VAR_053884 |
868 | T>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs780144853 CA7241876 |
869 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs147023729 CA7241877 |
869 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147023729 CA7241878 |
869 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756160188 CA262840494 |
870 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA7241875 rs756160188 |
870 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1331819412 CA390179046 |
871 | D>A | No |
ClinGen gnomAD |
|
|
rs745859336 CA7241874 |
872 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7241873 rs781108326 |
873 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs757078973 CA7241872 |
874 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1348364042 CA390178995 |
877 | L>V | No |
ClinGen TOPMed |
|
|
CA7241870 rs141668847 |
878 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1394713693 CA390178718 |
878 | D>G | No |
ClinGen gnomAD |
|
|
rs752368324 CA7241868 |
880 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758102806 CA7241869 |
880 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA262840447 rs752368324 |
880 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390178671 rs1173609367 |
882 | F>Y | No |
ClinGen gnomAD |
|
|
rs1479799663 CA390178654 |
884 | T>S | No |
ClinGen gnomAD |
|
|
CA7241867 rs764889893 |
885 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs759103863 CA7241866 |
887 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA390178620 rs1345949164 |
888 | G>D | No |
ClinGen gnomAD |
|
|
CA7241865 rs192640536 |
888 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390178591 rs1265119692 |
891 | D>Y | No |
ClinGen gnomAD |
|
|
rs1322855033 CA390178571 |
893 | L>Q | No |
ClinGen gnomAD |
No associated diseases with P12814
15 regional properties for P12814
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | FERM domain | 34 - 420 | IPR000299 |
| domain | Protein kinase domain | 582 - 854 | IPR000719-1 |
| domain | Protein kinase domain | 874 - 1152 | IPR000719-2 |
| domain | SH2 domain | 437 - 545 | IPR000980 |
| domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 584 - 843 | IPR001245-1 |
| domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 875 - 1146 | IPR001245-2 |
| active_site | Tyrosine-protein kinase, active site | 998 - 1010 | IPR008266 |
| binding_site | Protein kinase, ATP binding site | 880 - 907 | IPR017441 |
| domain | FERM central domain | 154 - 274 | IPR019748 |
| domain | Band 4.1 domain | 32 - 286 | IPR019749 |
| domain | Tyrosine-protein kinase, catalytic domain | 582 - 844 | IPR020635-1 |
| domain | Tyrosine-protein kinase, catalytic domain | 874 - 1148 | IPR020635-2 |
| domain | JAK, FERM F2 lobe domain | 147 - 274 | IPR041046 |
| domain | FERM F1 lobe ubiquitin-like domain | 39 - 128 | IPR041155 |
| domain | JAK1-3/TYK2, pleckstrin homology-like domain | 284 - 421 | IPR041381 |
Functions
19 GO annotations of cellular component
| Name | Definition |
|---|---|
| brush border | The dense covering of microvilli on the apical surface of an epithelial cell in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell. |
| cell junction | A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. |
| cell projection | A prolongation or process extending from a cell, e.g. a flagellum or axon. |
| cell-cell junction | A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. |
| cortical actin cytoskeleton | The portion of the actin cytoskeleton, comprising filamentous actin and associated proteins, that lies just beneath the plasma membrane. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| fascia adherens | A cell-cell junction that contains the transmembrane protein N-cadherin, which interacts with identical molecules from neighbouring cells to form a tight mechanical intercellular link; forms a large portion of the intercalated disc, the structure at which myofibrils terminate in cardiomyocytes. |
| 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). |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| platelet alpha granule lumen | The volume enclosed by the membrane of the platelet alpha granule. |
| pseudopodium | A temporary protrusion or retractile process of a cell, associated with flowing movements of the protoplasm, and serving for locomotion and feeding. |
| ruffle | Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork. |
| stress fiber | A contractile actin filament bundle that consists of short actin filaments with alternating polarity, cross-linked by alpha-actinin and possibly other actin bundling proteins, and with myosin present in a periodic distribution along the fiber. |
| Z disc | Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| double-stranded RNA binding | Binding to double-stranded RNA. |
| integrin binding | Binding to an integrin. |
| nuclear receptor coactivator activity | A transcription coactivator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound nuclear receptor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coregulators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| structural constituent of postsynapse | The action of a molecule that contributes to the structural integrity of a postsynapse. |
| transmembrane transporter binding | Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
| vinculin binding | Binding to vinculin, a protein found in muscle, fibroblasts, and epithelial cells that binds actin and appears to mediate attachment of actin filaments to integral proteins of the plasma membrane. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
| actin filament bundle assembly | The assembly of actin filament bundles; actin filaments are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness. |
| actin filament network formation | The assembly of a network of actin filaments; actin filaments on different axes and with differing orientations are crosslinked together to form a mesh of filaments. |
| actin filament organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments. Includes processes that control the spatial distribution of actin filaments, such as organizing filaments into meshworks, bundles, or other structures, as by cross-linking. |
| focal adhesion assembly | The aggregation and bonding together of a set of components to form a focal adhesion, a complex of intracellular signaling and structural proteins that provides a structural link between the internal actin cytoskeleton and the ECM, and also function as a locus of signal transduction activity. |
| muscle cell development | The process whose specific outcome is the progression of a muscle cell over time, from its formation to the mature structure. Muscle cell development does not include the steps involved in committing an unspecified cell to the muscle cell fate. |
| platelet formation | The process in which platelets bud from long processes extended by megakaryocytes. |
| platelet morphogenesis | Generation and organization of a platelet, a non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation. |
| regulation of apoptotic process | Any process that modulates the occurrence or rate of cell death by apoptotic process. |
20 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A5D7D1 | ACTN4 | Alpha-actinin-4 | Bos taurus (Bovine) | SS |
| Q0III9 | ACTN3 | Alpha-actinin-3 | Bos taurus (Bovine) | SS |
| Q3B7N2 | ACTN1 | Alpha-actinin-1 | Bos taurus (Bovine) | SS |
| Q3ZC55 | ACTN2 | Alpha-actinin-2 | Bos taurus (Bovine) | SS |
| Q90734 | ACTN4 | Alpha-actinin-4 | Gallus gallus (Chicken) | SS |
| P20111 | ACTN2 | Alpha-actinin-2 | Gallus gallus (Chicken) | SS |
| P05094 | ACTN1 | Alpha-actinin-1 | Gallus gallus (Chicken) | SS |
| P18091 | Actn | Alpha-actinin, sarcomeric | Drosophila melanogaster (Fruit fly) | SS |
| O15020 | SPTBN2 | Spectrin beta chain, non-erythrocytic 2 | Homo sapiens (Human) | PR |
| P11277 | SPTB | Spectrin beta chain, erythrocytic | Homo sapiens (Human) | PR |
| Q01082 | SPTBN1 | Spectrin beta chain, non-erythrocytic 1 | Homo sapiens (Human) | PR |
| P35609 | ACTN2 | Alpha-actinin-2 | Homo sapiens (Human) | EV |
| Q08043 | ACTN3 | Alpha-actinin-3 | Homo sapiens (Human) | SS |
| O43707 | ACTN4 | Alpha-actinin-4 | Homo sapiens (Human) | SS |
| O88990 | Actn3 | Alpha-actinin-3 | Mus musculus (Mouse) | SS |
| P57780 | Actn4 | Alpha-actinin-4 | Mus musculus (Mouse) | SS |
| Q9JI91 | Actn2 | Alpha-actinin-2 | Mus musculus (Mouse) | SS |
| Q7TPR4 | Actn1 | Alpha-actinin-1 | Mus musculus (Mouse) | SS |
| Q9QXQ0 | Actn4 | Alpha-actinin-4 | Rattus norvegicus (Rat) | SS |
| Q9Z1P2 | Actn1 | Alpha-actinin-1 | Rattus norvegicus (Rat) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDHYDSQQTN | DYMQPEEDWD | RDLLLDPAWE | KQQRKTFTAW | CNSHLRKAGT | QIENIEEDFR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DGLKLMLLLE | VISGERLAKP | ERGKMRVHKI | SNVNKALDFI | ASKGVKLVSI | GAEEIVDGNV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KMTLGMIWTI | ILRFAIQDIS | VEETSAKEGL | LLWCQRKTAP | YKNVNIQNFH | ISWKDGLGFC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ALIHRHRPEL | IDYGKLRKDD | PLTNLNTAFD | VAEKYLDIPK | MLDAEDIVGT | ARPDEKAIMT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YVSSFYHAFS | GAQKAETAAN | RICKVLAVNQ | ENEQLMEDYE | KLASDLLEWI | RRTIPWLENR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| VPENTMHAMQ | QKLEDFRDYR | RLHKPPKVQE | KCQLEINFNT | LQTKLRLSNR | PAFMPSEGRM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VSDINNAWGC | LEQVEKGYEE | WLLNEIRRLE | RLDHLAEKFR | QKASIHEAWT | DGKEAMLRQK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DYETATLSEI | KALLKKHEAF | ESDLAAHQDR | VEQIAAIAQE | LNELDYYDSP | SVNARCQKIC |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DQWDNLGALT | QKRREALERT | EKLLETIDQL | YLEYAKRAAP | FNNWMEGAME | DLQDTFIVHT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| IEEIQGLTTA | HEQFKATLPD | ADKERLAILG | IHNEVSKIVQ | TYHVNMAGTN | PYTTITPQEI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| NGKWDHVRQL | VPRRDQALTE | EHARQQHNER | LRKQFGAQAN | VIGPWIQTKM | EEIGRISIEM |
| 670 | 680 | 690 | 700 | 710 | 720 |
| HGTLEDQLSH | LRQYEKSIVN | YKPKIDQLEG | DHQLIQEALI | FDNKHTNYTM | EHIRVGWEQL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LTTIARTINE | VENQILTRDA | KGISQEQMNE | FRASFNHFDR | DHSGTLGPEE | FKACLISLGY |
| 790 | 800 | 810 | 820 | 830 | 840 |
| DIGNDPQGEA | EFARIMSIVD | PNRLGVVTFQ | AFIDFMSRET | ADTDTADQVM | ASFKILAGDK |
| 850 | 860 | 870 | 880 | 890 | |
| NYITMDELRR | ELPPDQAEYC | IARMAPYTGP | DSVPGALDYM | SFSTALYGES | DL |