Q9Y614
PR
Gene name |
ACTL7B |
Protein name |
Actin-like protein 7B |
Names |
Actin-like-7-beta |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10880 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9Y614
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9Y614-F1 | Predicted | AlphaFoldDB |
442 variants for Q9Y614
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
COSM2157213 rs139165156 CA5173731 |
2 | A>V | central_nervous_system Variant assessed as Somatic; 5.403e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA374395715 rs1235070440 |
7 | P>H | No |
ClinGen TOPMed |
|
|
CA374395703 rs1178197890 |
8 | M>K | No |
ClinGen gnomAD |
|
|
rs1045671747 CA197505553 |
10 | L>R | No |
ClinGen TOPMed |
|
|
rs949944890 CA197505552 |
11 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA374395659 rs1428000003 |
11 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs544806115 CA5173728 |
12 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5173726 rs771170882 |
13 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA5173725 rs574545860 |
14 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs574545860 CA374395615 |
14 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA374395600 rs1390368239 |
15 | G>R | No |
ClinGen TOPMed |
|
|
CA5173724 rs780866471 |
16 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374395537 rs1356039156 |
19 | E>G | No |
ClinGen gnomAD |
|
|
CA197505516 rs375806274 |
20 | A>T | No |
ClinGen gnomAD |
|
|
rs780081792 CA5173721 |
21 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA374395509 rs1282731644 |
21 | G>R | No |
ClinGen gnomAD |
|
|
rs141483172 CA197505499 |
23 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5173719 rs141483172 |
23 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA374395460 rs1246160382 |
24 | P>S | No |
ClinGen TOPMed |
|
|
CA197505484 rs1039516720 |
25 | G>A | No |
ClinGen Ensembl |
|
|
CA5173716 rs146150612 |
25 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374395439 rs146150612 |
25 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1468169591 CA374395420 |
26 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5173715 rs763647244 |
27 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5173713 rs775693299 |
28 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374395367 rs775693299 |
28 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5173712 rs768030425 |
28 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA374395324 rs987773194 |
29 | S>R | No |
ClinGen TOPMed |
|
|
rs770944293 CA5173709 |
31 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5173710 rs377288822 |
31 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA374395243 rs1460258179 |
33 | T>S | No |
ClinGen gnomAD |
|
|
rs1368086565 CA374395224 |
34 | G>S | No |
ClinGen TOPMed |
|
|
rs773552541 CA374395188 |
35 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5173707 rs773552541 |
35 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1259000718 CA374395173 |
36 | A>V | No |
ClinGen gnomAD |
|
|
CA5173705 rs746872164 |
37 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs779945678 CA5173704 |
39 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA374395130 rs1381739827 |
40 | K>E | No |
ClinGen gnomAD |
|
|
rs1564198752 CA374395122 |
40 | K>R | No |
ClinGen Ensembl |
|
|
CA5173703 rs775300176 |
43 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5173702 rs745741967 |
43 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138263222 CA5173699 |
44 | R>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756892283 CA5173700 |
44 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA5173698 rs763853185 |
45 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs962322621 CA197505379 |
46 | V>G | No |
ClinGen Ensembl |
|
|
CA197505384 rs111522075 |
46 | V>L | No |
ClinGen Ensembl |
|
|
rs1443222369 CA374394997 |
47 | H>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA374394992 rs1443222369 |
47 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA374394069 COSM259299 rs1189813942 |
48 | K>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA374394106 rs1242891031 |
48 | K>Q | No |
ClinGen gnomAD |
|
|
rs374071718 CA5173697 |
49 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM332507 rs1338284209 CA374394003 |
50 | K>Q | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs753133582 CA5173696 |
51 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs767799116 CA5173695 |
52 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774900912 CA5173693 |
54 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 55 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1319024972 CA374393750 |
55 | D>H | No |
ClinGen TOPMed |
|
|
rs763137005 CA5173691 |
59 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193001850 CA374393652 |
59 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5173690 rs773144689 |
61 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA374393579 rs1324547339 |
61 | C>Y | No |
ClinGen gnomAD |
|
|
rs770078766 CA374393501 |
63 | C>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770078766 CA197505347 |
63 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317556134 CA374393514 |
63 | C>Y | No |
ClinGen gnomAD |
|
|
CA5173688 rs748279247 |
64 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA197505326 rs570987694 COSM1755867 |
66 | A>T | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes TOPMed gnomAD |
|
rs150446824 CA5173686 |
66 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374393366 rs1371906258 |
67 | G>A | No |
ClinGen gnomAD |
|
|
CA374393378 rs1476589168 |
67 | G>R | No |
ClinGen gnomAD |
|
|
rs61742989 CA5173684 |
69 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477365665 CA374393284 |
71 | P>S | No |
ClinGen TOPMed |
|
|
CA5173683 rs757119451 |
72 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA374393234 rs777105306 |
73 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs777105306 CA5173681 |
73 | Y>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 75 | I>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374393164 rs1337191302 |
75 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5173679 rs755792266 |
76 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA374393117 rs1346885541 |
78 | T>N | No |
ClinGen gnomAD |
|
|
CA374393131 rs1587855869 |
78 | T>P | No |
ClinGen Ensembl |
|
|
rs1587855863 CA374393097 |
80 | G>S | No |
ClinGen Ensembl |
|
|
rs755405980 CA374393071 CA5173676 |
81 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs767146838 CA5173677 |
81 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA5173674 rs140561800 |
82 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs140561800 CA5173675 |
82 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs777058720 CA5173669 |
85 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs761937962 CA5173670 |
85 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5173668 rs11543181 |
86 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480148606 CA374392985 |
86 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1271978330 CA374392961 |
88 | D>A | No |
ClinGen gnomAD |
|
|
rs759452394 CA5173667 |
88 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374392950 rs1200990834 |
89 | A>T | No |
ClinGen gnomAD |
|
|
rs774235994 CA5173666 |
89 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1276737285 CA374392936 |
90 | G>R | No |
ClinGen TOPMed |
|
|
rs749110294 CA5173664 |
91 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs770928741 CA5173665 |
91 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 92 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1280965938 CA374392904 |
92 | T>N | No |
ClinGen gnomAD |
|
|
rs1587855833 CA374392910 |
92 | T>P | No |
ClinGen Ensembl |
|
|
rs370395937 CA5173661 |
93 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs777347496 CA5173663 |
93 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs769248349 CA5173660 |
95 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA374392826 rs1255421384 |
96 | T>I | No |
ClinGen TOPMed |
|
|
rs139091828 CA5173659 |
97 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780867258 CA5173658 |
100 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA5173657 rs754605711 |
101 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1469401543 CA374392725 |
104 | N>I | No |
ClinGen gnomAD |
|
|
rs1408769817 CA374392698 |
105 | T>R | No |
ClinGen gnomAD |
|
| TCGA novel | 106 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs932098251 CA197505186 |
106 | E>Q | No |
ClinGen TOPMed |
|
|
rs758951342 CA374392648 |
107 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758951342 CA5173654 COSM379489 |
107 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs375788991 CA5173652 |
109 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761836400 CA5173651 |
110 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202921196 CA374392552 COSM3952178 |
112 | V>M | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA197505176 rs956744993 |
113 | N>I | No |
ClinGen TOPMed |
|
|
rs753945581 CA5173650 |
113 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA197505170 rs911946010 |
114 | P>A | No |
ClinGen gnomAD |
|
|
rs764432169 CA5173649 |
114 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1271437764 CA374392441 |
117 | H>R | No |
ClinGen gnomAD |
|
|
CA197505143 rs114592248 |
119 | I>V | No |
ClinGen 1000Genomes |
|
|
COSM3699331 rs1330211221 CA374392388 |
120 | V>M | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA5173646 rs372513303 |
122 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762798054 CA5173645 |
124 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA5173644 rs769743573 |
125 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374392305 rs1452501937 |
125 | C>R | No |
ClinGen gnomAD |
|
|
CA374392307 rs1452501937 |
125 | C>S | No |
ClinGen gnomAD |
|
|
rs769743573 CA5173643 |
125 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5173642 rs747709934 |
126 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5173641 rs116502729 |
128 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374392230 rs1399182533 |
128 | D>H | No |
ClinGen gnomAD |
|
|
CA374392203 rs1169815376 |
129 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA5173640 rs147678961 |
129 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1421664542 CA374392174 |
130 | W>R | No |
ClinGen gnomAD |
|
|
CA374392153 rs1446262812 |
131 | E>K | No |
ClinGen gnomAD |
|
|
CA374392132 rs1353181774 |
131 | E>V | No |
ClinGen TOPMed |
|
|
rs1240992749 CA374392097 |
133 | I>F | No |
ClinGen gnomAD |
|
|
CA5173639 rs11543180 |
135 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs11543180 CA197505103 |
135 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1243349202 CA374392048 |
135 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5173638 rs780482445 |
136 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA197505093 rs1012400780 |
137 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs758754533 CA374392019 |
137 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5173637 rs758754533 |
137 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1452569402 CA374391946 |
140 | I>F | No |
ClinGen gnomAD |
|
|
CA197505082 rs868468200 |
140 | I>T | No |
ClinGen Ensembl |
|
|
rs142207473 CA197505069 |
141 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757789067 CA5173634 |
141 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757789067 CA374391902 |
141 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142207473 CA5173635 |
141 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374391891 rs1165083441 |
142 | P>A | No |
ClinGen TOPMed |
|
|
rs909538683 CA197505056 |
142 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs909538683 CA374391888 |
142 | P>R | No |
ClinGen gnomAD |
|
|
CA5173631 rs756415889 |
143 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs199588559 CA5173632 |
143 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5173630 rs752916852 |
144 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1293339851 CA374391860 |
144 | E>Q | No |
ClinGen TOPMed |
|
|
CA197505032 CA5173628 rs149121708 |
145 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773042729 CA5173627 |
146 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5173626 rs765113595 |
147 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1489679947 CA374391720 |
149 | V>G | No |
ClinGen gnomAD |
|
|
rs1224287856 CA374391748 |
149 | V>L | No |
ClinGen gnomAD |
|
|
CA374391681 rs1587855728 |
151 | D>A | No |
ClinGen Ensembl |
|
|
CA5173623 rs768099752 |
151 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA197505022 rs879870686 |
152 | P>L | No |
ClinGen Ensembl |
|
|
rs145110192 CA5173622 |
152 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145110192 CA374391645 |
152 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5173621 rs775044766 |
153 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1339984707 CA374391587 |
155 | S>I | No |
ClinGen gnomAD |
|
|
rs1339984707 CA374391591 |
155 | S>N | No |
ClinGen gnomAD |
|
|
rs1407009912 CA374391564 |
156 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1024019431 CA197505007 |
157 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA5173619 rs746241280 |
157 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs115562684 CA5173618 |
158 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757840205 CA5173617 |
159 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1168261820 CA374391508 |
160 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA197505002 rs941985297 |
160 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA374391497 rs941985297 |
160 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1168261820 CA374391516 |
160 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA5173615 rs778408926 |
162 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377732273 CA5173614 |
163 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1439912355 CA374391433 |
163 | Y>D | No |
ClinGen gnomAD |
|
|
rs1267790926 CA374391394 |
164 | A>T | No |
ClinGen gnomAD |
|
|
rs1184954204 CA374391384 |
164 | A>V | No |
ClinGen TOPMed |
|
|
rs531183954 CA197504978 |
166 | L>F | No |
ClinGen 1000Genomes |
|
|
rs1164449358 CA374391219 |
169 | E>D | No |
ClinGen TOPMed |
|
|
CA374391228 rs1481179277 |
169 | E>G | No |
ClinGen gnomAD |
|
|
rs755182349 CA374391207 |
170 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5173611 rs755182349 |
170 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA374391213 rs1367089921 |
170 | T>P | No |
ClinGen TOPMed |
|
|
CA374391214 rs1367089921 |
170 | T>S | No |
ClinGen TOPMed |
|
|
CA5173609 rs764944762 |
173 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs143311873 CA5173608 |
174 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374391119 rs139811424 |
175 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374391132 rs1430574926 |
175 | A>T | No |
ClinGen Ensembl |
|
|
CA5173607 rs139811424 |
175 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1375295831 CA374391105 |
176 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA5173605 rs760150319 |
176 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374391089 rs1296169009 |
177 | H>N | No |
ClinGen gnomAD |
|
|
rs141637182 CA5173602 |
178 | V>A | No |
ClinGen ESP ExAC |
|
|
CA374391042 rs150518659 |
178 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150518659 CA5173603 |
178 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5173601 rs774588954 |
179 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1587855668 CA374390981 |
180 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 181 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374390959 rs1427933597 |
181 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs749663478 CA5173599 |
182 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5173597 rs756669502 |
185 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781295602 CA197504917 |
186 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781295602 CA5173595 |
186 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5173593 rs751746695 |
187 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA5173591 rs757112049 |
188 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs757112049 CA374390780 |
188 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1318895607 CA374390737 |
189 | Y>* | No |
ClinGen gnomAD |
|
|
rs753607416 CA5173590 |
189 | Y>D | No |
ClinGen ExAC |
|
|
CA5173589 rs764040410 |
190 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1445853644 CA374390643 |
193 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs760619623 CA5173588 |
194 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA374390630 rs1400880940 |
195 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs371025298 CA5173585 |
197 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA197504860 rs991038734 |
199 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA374390571 rs1244075169 |
199 | S>R | No |
ClinGen gnomAD |
|
|
CA5173583 rs770673812 |
200 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763463229 CA374390535 |
201 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779265577 CA197504850 |
201 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs763463229 CA5173582 |
201 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374390528 rs773666020 |
202 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755319078 CA5173580 |
202 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA5173581 rs773666020 |
202 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5173578 rs781146330 |
203 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 204 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs548934963 CA197504817 |
205 | H>Q | No |
ClinGen gnomAD |
|
|
CA5173576 rs747057126 |
206 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs572561289 CA5173577 |
206 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5173574 rs758565813 |
210 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA374390383 rs1382113416 |
211 | E>G | No |
ClinGen gnomAD |
|
|
rs1002664862 CA197504779 |
211 | E>K | No |
ClinGen TOPMed |
|
|
CA5173570 rs752735107 |
213 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA374390349 rs752735107 |
213 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1311089753 CA374390326 |
214 | V>E | No |
ClinGen TOPMed |
|
|
CA374390330 CA5173569 rs767348925 |
214 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767348925 CA374390333 |
214 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5173567 rs751094899 |
216 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs375085849 CA5173568 |
216 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1564198373 CA374390292 |
217 | G>S | No |
ClinGen Ensembl |
|
|
CA374390276 rs1448842948 |
218 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs146541685 CA5173564 |
219 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5173562 rs143927577 |
220 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 220 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA197504696 rs756533515 |
221 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs756533515 CA197504708 |
221 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5173561 rs542048908 |
221 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs542048908 CA374390236 |
221 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5173559 rs747111351 |
222 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs769015023 CA5173560 |
222 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA197504669 rs138281895 |
224 | Y>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1432648564 CA374390186 |
224 | Y>C | No |
ClinGen TOPMed |
|
|
CA5173557 rs772285123 |
225 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 225 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780067454 CA5173558 |
225 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA374390169 COSM3663995 rs772285123 |
225 | A>V | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 226 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs575244865 CA197504643 |
227 | G>D | No |
ClinGen 1000Genomes |
|
|
CA197504638 rs955896875 |
229 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs759913792 CA374390094 |
230 | T>I | No |
ClinGen gnomAD |
|
|
rs759913792 CA197504630 |
230 | T>S | No |
ClinGen gnomAD |
|
|
CA374390073 rs1050318807 |
231 | N>S | No |
ClinGen TOPMed |
|
|
CA197504613 rs1050318807 |
231 | N>T | No |
ClinGen TOPMed |
|
|
CA374390030 rs1476639188 |
233 | L>P | No |
ClinGen gnomAD |
|
|
rs779089962 CA5173554 |
234 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA374390004 rs1193117973 |
235 | Q>* | No |
ClinGen gnomAD |
|
|
rs1480803021 CA374389981 |
237 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 237 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747862817 CA5173552 |
238 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA5173551 rs781237180 |
238 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754824857 CA5173550 |
239 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA374389923 rs1197489102 |
240 | A>P | No |
ClinGen gnomAD |
|
|
rs1216929427 CA374389914 |
240 | A>V | No |
ClinGen TOPMed |
|
|
CA374389905 rs1257329580 |
241 | G>C | No |
ClinGen gnomAD |
|
|
rs1257329580 CA374389902 |
241 | G>R | No |
ClinGen gnomAD |
|
|
rs1587855541 CA374389871 |
243 | A>G | No |
ClinGen Ensembl |
|
|
rs1281030754 CA374389876 |
243 | A>S | No |
ClinGen gnomAD |
|
|
rs750158492 CA5173546 |
244 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs758138385 CA5173547 |
244 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764794350 CA5173545 |
245 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374389824 rs1398826470 |
246 | D>E | No |
ClinGen gnomAD |
|
|
rs1170556412 CA374389815 |
247 | D>H | No |
ClinGen gnomAD |
|
|
rs375464521 CA5173543 |
248 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1431479702 CA374389781 |
249 | L>M | No |
ClinGen gnomAD |
|
|
CA374389770 rs1189726108 |
250 | H>P | No |
ClinGen gnomAD |
|
|
rs1189726108 CA374389772 |
250 | H>R | No |
ClinGen gnomAD |
|
|
CA374389707 rs1456272181 |
254 | H>Y | No |
ClinGen gnomAD |
|
|
CA197504533 rs1007984250 |
256 | K>E | No |
ClinGen Ensembl |
|
|
COSM1103660 CA374389655 rs1260635143 |
256 | K>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA5173541 rs764691236 |
256 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1218296068 CA374389621 |
257 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
rs761103185 CA5173540 |
257 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs890447679 CA197504522 |
258 | K>E | No |
ClinGen Ensembl |
|
|
rs1444866800 CA374389591 |
259 | C>F | No |
ClinGen gnomAD |
|
|
CA197504506 rs372138015 |
260 | C>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA374389545 rs1254754891 |
261 | Y>H | No |
ClinGen gnomAD |
|
|
rs1030394573 CA197504499 |
262 | A>G | No |
ClinGen Ensembl |
|
|
CA5173534 rs115068245 |
266 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1378751423 CA374389434 |
266 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA197504458 rs202216987 |
267 | E>* | No |
ClinGen Ensembl |
|
|
CA374389349 rs1409070865 |
270 | L>R | No |
ClinGen gnomAD |
|
|
rs1379397847 CA374389319 |
273 | V>I | No |
ClinGen gnomAD |
|
|
rs1379397847 CA374389317 |
273 | V>L | No |
ClinGen gnomAD |
|
|
rs369622245 CA374389291 |
274 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369622245 CA5173529 |
274 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374389276 rs1208899778 |
275 | E>G | No |
ClinGen gnomAD |
|
|
CA5173526 rs749923318 |
276 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758050483 CA5173527 |
276 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1306606675 COSM329112 CA374389237 |
278 | R>C | Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA5173524 COSM1244179 rs764991598 |
278 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs756817360 CA5173523 CA374389226 |
279 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1301600694 CA374389173 |
282 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1447439158 CA374389121 COSM1459185 |
284 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA197504347 rs867136093 |
286 | G>D | No |
ClinGen gnomAD |
|
|
rs140336222 CA5173521 |
286 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5173520 rs761013641 |
287 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA197504337 rs928187991 |
288 | L>H | No |
ClinGen TOPMed |
|
|
CA5173519 rs566851763 |
289 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1446225787 CA374389038 |
290 | T>A | No |
ClinGen gnomAD |
|
|
rs1163563254 CA374389022 |
291 | I>S | No |
ClinGen TOPMed |
|
|
rs1163563254 CA374389023 |
291 | I>T | No |
ClinGen TOPMed |
|
|
CA374389010 rs1181187882 |
292 | G>V | No |
ClinGen gnomAD |
|
|
CA374389001 rs1412810373 |
293 | Q>R | No |
ClinGen TOPMed |
|
|
rs759658357 CA5173516 |
294 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs774244641 CA5173515 |
295 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs774244641 CA374388973 |
295 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs774244641 CA374388975 |
295 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs114524484 CA5173514 COSM1292766 |
297 | R>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA197504325 rs924317030 |
297 | R>P | No |
ClinGen gnomAD |
|
|
CA5173513 rs749406752 |
301 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA374388890 rs1287286588 |
302 | L>H | No |
ClinGen gnomAD |
|
|
CA5173510 rs200030385 |
306 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1271933655 CA374388832 |
308 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1271933655 CA374388829 |
308 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1398218900 CA374388827 |
309 | G>C | No |
ClinGen gnomAD |
|
| TCGA novel | 309 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1445363382 CA374388804 |
311 | T>A | No |
ClinGen TOPMed |
|
|
CA374388798 rs1360208999 |
311 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1448322065 CA374388792 |
312 | Q>* | No |
ClinGen TOPMed |
|
|
rs772114913 CA5173508 |
313 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA197504297 rs865777816 |
313 | P>S | No |
ClinGen Ensembl |
|
|
CA5173505 rs756946906 |
316 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5173504 rs753491195 |
317 | E>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1472184 CA374388597 rs1269202919 |
319 | T>A | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA374388581 rs1260518967 |
319 | T>I | No |
ClinGen TOPMed |
|
|
CA197504230 rs1017965847 |
321 | A>T | No |
ClinGen gnomAD |
|
|
rs1319248790 CA374388539 |
322 | C>F | No |
ClinGen TOPMed |
|
|
CA374388521 rs1587855420 |
323 | L>R | No |
ClinGen Ensembl |
|
|
rs777473301 CA5173503 |
324 | G>A | No |
ClinGen ExAC |
|
|
CA374388470 rs756507402 |
325 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5173502 rs756507402 COSM1244181 |
325 | R>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1444270646 CA374388399 |
328 | D>G | No |
ClinGen TOPMed |
|
|
CA5173499 rs759999456 |
329 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs751666825 CA5173498 |
333 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1237180939 CA374388260 |
334 | E>D | No |
ClinGen TOPMed |
|
|
rs993427716 CA197504174 |
334 | E>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 336 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139846981 CA5173497 |
337 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1284192216 CA374388198 |
337 | A>V | No |
ClinGen gnomAD |
|
|
CA5173495 rs549634590 |
338 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770109981 CA5173494 |
339 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 342 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5173490 rs772137420 |
343 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374388073 rs1429315375 |
344 | G>S | No |
ClinGen gnomAD |
|
|
rs1414598472 CA374388053 |
344 | G>V | No |
ClinGen TOPMed |
|
|
CA5173489 rs114143830 COSM4163196 |
346 | T>S | thyroid [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1265719842 CA374387996 |
347 | M>R | No |
ClinGen gnomAD |
|
|
CA5173487 rs770411019 |
350 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs748799712 CA5173486 |
351 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755713651 CA374387892 |
353 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs755713651 CA5173484 |
353 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs753089435 CA5173483 COSM3675197 |
354 | R>C | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA374387874 rs753089435 |
354 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM273618 rs1263764064 CA374387870 |
354 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA5173481 rs755522980 |
355 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA374387843 rs1300839296 |
356 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1347203414 CA374387828 |
357 | R>G | No |
ClinGen TOPMed |
|
|
rs766908997 CA5173479 |
358 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5173480 rs752064414 |
358 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752064414 CA374387808 |
358 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218458568 CA374387758 |
361 | L>F | No |
ClinGen TOPMed |
|
|
rs1445900365 CA374387745 |
362 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs551989310 CA5173477 |
363 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA197504108 rs139044591 |
364 | P>S | No |
ClinGen ESP gnomAD |
|
|
rs1564198085 CA374387694 |
365 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 366 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5173474 rs762057573 |
366 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs762057573 CA374387678 |
366 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5173472 rs772047400 |
368 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA374387597 rs1379347933 |
369 | A>P | No |
ClinGen TOPMed |
|
|
CA5173471 rs759367053 |
372 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5173469 rs770877963 |
373 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3719512 CA374387490 rs1564198070 |
376 | R>K | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA197504062 rs902317740 |
377 | K>N | No |
ClinGen TOPMed |
|
|
rs1482298828 CA374387463 |
377 | K>R | No |
ClinGen gnomAD |
|
|
CA374387424 rs1325608045 |
378 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 378 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772668094 CA5173466 |
379 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374387404 rs1294034325 |
380 | V>M | No |
ClinGen TOPMed |
|
|
rs1355621254 CA374387341 |
382 | T>I | No |
ClinGen gnomAD |
|
|
CA374387300 rs1314739222 |
384 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA374387302 rs1314739222 |
384 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs375377607 CA5173463 |
384 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 384 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1400819773 CA374387267 |
385 | S>F | No |
ClinGen gnomAD |
|
|
rs1564198042 CA374387230 |
386 | I>M | No |
ClinGen Ensembl |
|
|
rs1242596622 CA374387242 |
386 | I>S | No |
ClinGen TOPMed |
|
|
rs755365391 CA5173462 |
387 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5173461 rs747373089 |
388 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747373089 CA374387223 |
388 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs946741542 CA197503983 |
389 | S>C | No |
ClinGen TOPMed |
|
|
CA197503978 rs1042797226 |
390 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5173458 rs750564969 |
391 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs765347719 CA5173457 |
392 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs986490003 CA197503954 |
393 | F>L | No |
ClinGen gnomAD |
|
|
CA374387053 rs1284127787 |
395 | Q>H | No |
ClinGen gnomAD |
|
|
CA374387042 rs1215682553 |
396 | L>F | No |
ClinGen gnomAD |
|
|
CA5173453 rs759298090 |
397 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764376655 CA5173454 |
397 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA197503941 rs895187968 |
400 | K>M | No |
ClinGen TOPMed |
|
|
CA5173452 rs375138636 |
402 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776643262 CA374386937 |
402 | E>G | No |
ClinGen gnomAD |
|
|
CA197503917 rs776643262 |
402 | E>V | No |
ClinGen gnomAD |
|
|
rs1295603831 CA374386929 |
403 | F>L | No |
ClinGen gnomAD |
|
|
rs1287525594 CA374386922 |
403 | F>S | No |
ClinGen TOPMed |
|
|
rs939646974 CA197503904 |
406 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA374386855 rs1419530243 |
407 | G>C | No |
ClinGen gnomAD |
|
|
rs868000824 CA197503901 |
407 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1419530243 CA374386860 |
407 | G>S | No |
ClinGen gnomAD |
|
|
CA5173448 rs769353389 CA5173449 |
408 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374386799 rs1449150368 |
409 | V>G | No |
ClinGen TOPMed |
|
|
rs370958419 CA197503882 |
409 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5173447 rs370958419 |
409 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA5173446 rs774565163 |
410 | A>* | No |
ClinGen ExAC |
|
|
rs776306463 CA5173445 |
411 | I>V | No |
ClinGen ExAC |
|
|
rs923154338 CA197503864 |
412 | Y>* | No |
ClinGen Ensembl |
|
|
CA374386761 rs1587855307 |
412 | Y>S | No |
ClinGen Ensembl |
|
|
rs368861770 CA5173443 |
414 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with Q9Y614
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| dynactin complex | A 20S multiprotein assembly of total mass about 1.2 MDa that activates dynein-based activity in vivo. A large structural component of the complex is an actin-like 40 nm filament composed of actin-related protein, to which other components attach. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| structural constituent of cytoskeleton | The action of a molecule that contributes to the structural integrity of a cytoskeletal structure. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q32KZ2 | ACTL7A | Actin-like protein 7A | Bos taurus (Bovine) | PR |
| Q9H568 | ACTL8 | Actin-like protein 8 | Homo sapiens (Human) | PR |
| Q9Y615 | ACTL7A | Actin-like protein 7A | Homo sapiens (Human) | PR |
| Q9QY83 | Actl7b | Actin-like protein 7B | Mus musculus (Mouse) | PR |
| Q4QR76 | Actl7b | Actin-like protein 7B | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATRNSPMPL | GTAQGDPGEA | GTRPGPDASL | RDTGAATQLK | MKPRKVHKIK | AVIIDLGSQY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CKCGYAGEPR | PTYFISSTVG | KRCPEAADAG | DTRKWTLVGH | ELLNTEAPLK | LVNPLKHGIV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VDWDCVQDIW | EYIFRTAMKI | LPEEHAVLVS | DPPLSPSSNR | EKYAELMFET | FGIPAMHVTS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QSLLSIYSYG | KTSGLVVESG | HGVSHVVPIS | EGDVLPGLTS | RADYAGGDLT | NYLMQLLNEA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GHAFTDDHLH | IIEHIKKKCC | YAAFLPEEEL | GLVPEELRVD | YELPDGKLIT | IGQERFRCSE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MLFQPSLAGS | TQPGLPELTA | ACLGRCQDTG | FKEEMAANVL | LCGGCTMLDG | FPERFQRELS |
| 370 | 380 | 390 | 400 | 410 | |
| LLCPGDSPAV | AAAPERKTSV | WTGGSILASL | QAFQQLWVSK | EEFEERGSVA | IYSKC |