Q8N0Z2
PR
Gene name |
ABRA |
Protein name |
Actin-binding Rho-activating protein |
Names |
Striated muscle activator of Rho-dependent signaling, STARS |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:137735 |
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 Q8N0Z2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8N0Z2-F1 | Predicted | AlphaFoldDB |
365 variants for Q8N0Z2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs770343497 CA183275146 |
2 | A>T | No |
ClinGen gnomAD |
|
|
rs1294955775 CA371962640 |
2 | A>V | No |
ClinGen gnomAD |
|
|
rs149782926 CA4841097 |
3 | P>L | Variant assessed as Somatic; 0.0001146 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA371962625 rs1264911183 |
3 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1264911183 CA371962629 |
3 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 4 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4841092 rs770592238 |
5 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4841093 COSM267967 rs780637593 |
5 | E>K | Variant assessed as Somatic; 5.498e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4841091 rs746468635 |
8 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA371962511 CA4841090 rs11996466 |
8 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143979123 CA4841088 |
9 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143979123 CA371962505 |
9 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA183275037 rs934334463 |
11 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 12 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4841085 rs750690517 |
14 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371962420 rs1252597109 |
15 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4841083 rs761933294 |
16 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4841081 rs764087681 |
17 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 18 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4841078 rs769633887 |
18 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs150897638 CA4841079 |
18 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371962394 rs1330136092 |
20 | I>L | No |
ClinGen gnomAD |
|
|
CA4841076 rs776365065 |
20 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4841075 rs770684024 |
21 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4841073 rs543076495 |
21 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs543076495 CA4841074 |
21 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA371962390 rs770684024 |
21 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4841072 rs769342981 |
22 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA371962384 rs1384868340 |
22 | T>R | No |
ClinGen gnomAD |
|
|
rs1294018018 CA371962358 |
27 | I>V | No |
ClinGen TOPMed |
|
|
rs200867691 CA4841069 |
31 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs148182297 COSM1313598 CA4841068 |
31 | R>P | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs148182297 CA4841067 |
31 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4841066 rs763098847 |
32 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 35 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371962200 rs1490398091 |
35 | Q>H | No |
ClinGen gnomAD |
|
|
rs1226321098 CA371962182 |
36 | W>L | No |
ClinGen gnomAD |
|
|
CA4841065 rs143020994 |
36 | W>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4841064 rs764169695 |
37 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA183274802 rs764169695 |
37 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1094753 CA4841063 rs762870434 |
37 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1349212082 CA371962147 |
39 | E>K | No |
ClinGen gnomAD |
|
|
rs1405945987 CA371962103 |
40 | N>K | No |
ClinGen gnomAD |
|
|
rs1305287557 CA371962111 |
40 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 42 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371962043 rs1349451672 |
43 | R>S | No |
ClinGen gnomAD |
|
|
CA183274779 rs994959279 |
44 | Q>R | No |
ClinGen Ensembl |
|
|
CA4841061 rs185503369 |
46 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs137924961 CA4841057 |
47 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs905956992 CA4841059 |
47 | E>V | No |
ClinGen gnomAD |
|
|
CA4841056 rs766201103 |
49 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA371961903 rs1400647052 |
51 | W>R | No |
ClinGen TOPMed |
|
|
rs1409695675 CA371961866 |
52 | L>P | No |
ClinGen gnomAD |
|
|
rs772933656 CA4841054 |
53 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747564086 CA4841052 |
54 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371961815 rs747564086 |
54 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868120866 CA183274692 COSM1700457 |
55 | G>E | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA4841050 rs770172317 CA4841051 |
55 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA371961776 rs1554641157 |
56 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA371961768 rs1284299630 |
57 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4841048 rs781527207 |
57 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342016080 CA371961691 |
60 | P>S | No |
ClinGen gnomAD |
|
|
rs1563782731 CA371961676 |
61 | Q>H | No |
ClinGen Ensembl |
|
|
rs757563640 CA4841047 |
62 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747231998 CA4841046 |
62 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308343469 CA371961668 |
63 | P>R | No |
ClinGen TOPMed |
|
|
CA4841045 rs777928324 |
63 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 64 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4841044 rs758524489 |
65 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4841043 rs752693930 |
66 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4841041 rs769872145 |
67 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769872145 CA4841042 |
67 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA183274599 rs1048208765 |
68 | P>H | No |
ClinGen TOPMed |
|
|
CA371961641 rs1349721922 |
68 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 69 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753744299 CA4841040 |
70 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4841038 rs760507455 |
74 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 75 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773021452 CA4841037 |
75 | A>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1551345 rs767056599 CA4841036 |
76 | Q>* | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA183274561 rs1053333102 |
76 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA371961576 rs1424165303 |
78 | A>D | No |
ClinGen gnomAD |
|
|
CA4841033 rs773733534 |
81 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4841031 rs145381419 |
84 | R>C | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM168473 CA4841029 rs140322632 |
84 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA371961540 rs140322632 |
84 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140322632 CA4841030 |
84 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA183274524 rs1043099754 |
87 | E>G | No |
ClinGen Ensembl |
|
|
rs369726009 CA4841024 |
88 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1194719781 CA371961521 |
88 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA371961514 rs1398193541 |
89 | H>N | No |
ClinGen TOPMed |
|
|
rs1300151883 CA371961509 |
89 | H>Q | No |
ClinGen TOPMed |
|
|
CA371961504 rs1362866536 |
90 | G>A | No |
ClinGen TOPMed |
|
|
CA4841023 rs574310677 |
92 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 94 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753859219 CA4841022 |
95 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA183274492 rs921017528 |
98 | A>T | No |
ClinGen Ensembl |
|
|
rs766370672 CA4841021 |
98 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA183274479 rs756024441 |
100 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4841019 rs149735084 |
101 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371961410 rs1390632733 |
104 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs761360116 CA4841017 |
105 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs771606374 CA183274457 |
105 | K>R | No |
ClinGen gnomAD |
|
|
CA4841016 rs140878408 |
108 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140878408 CA183274440 |
108 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs919826204 CA183274415 |
109 | V>A | No |
ClinGen gnomAD |
|
|
CA4841015 rs763521260 |
109 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4841014 rs144597648 |
110 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs191232631 CA4841012 |
111 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4841011 rs113926734 |
112 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4841010 rs113926734 |
112 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772394408 CA4841008 |
115 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs199815182 CA4841006 |
115 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1023479007 CA183274293 |
118 | Y>C | No |
ClinGen Ensembl |
|
|
CA183274313 rs369044861 |
118 | Y>H | No |
ClinGen Ensembl |
|
|
rs201083489 CA183274270 |
121 | G>R | No |
ClinGen gnomAD |
|
|
rs780183091 CA4841003 |
123 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1370916524 CA371960897 |
123 | D>V | No |
ClinGen gnomAD |
|
|
rs780183091 CA371960900 |
123 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4841001 rs750305260 |
124 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1587351844 CA371960849 |
126 | H>P | No |
ClinGen Ensembl |
|
|
CA371960794 rs1411084705 |
129 | H>P | No |
ClinGen gnomAD |
|
|
rs866111633 CA183274232 |
130 | R>K | No |
ClinGen Ensembl |
|
|
rs147263625 CA4840998 |
131 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368270742 CA4840996 |
132 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368270742 CA371960745 |
132 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA183274205 rs565264240 |
140 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1011764275 CA183274203 |
142 | Q>* | No |
ClinGen Ensembl |
|
|
rs371240527 CA183274202 |
142 | Q>H | No |
ClinGen ESP TOPMed |
|
|
rs1244423522 CA371960495 |
146 | D>E | No |
ClinGen gnomAD |
|
|
rs1309308291 CA371960444 |
149 | R>G | No |
ClinGen gnomAD |
|
|
rs761154629 CA4840993 |
149 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1351066776 CA371960432 |
150 | I>N | No |
ClinGen gnomAD |
|
|
CA183274184 rs79457303 |
151 | L>P | No |
ClinGen Ensembl |
|
|
CA4840991 rs772326646 |
152 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371960401 rs772326646 |
152 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs996927258 CA183274157 |
153 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs996927258 CA371960394 |
153 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1457135112 CA371960390 |
154 | H>Y | No |
ClinGen gnomAD |
|
|
rs1468669878 CA371960382 |
155 | G>S | No |
ClinGen TOPMed |
|
|
rs774486799 CA4840988 |
157 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4840987 rs145473353 |
158 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4840986 rs754480946 |
158 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs201310535 CA4840983 COSM4149487 |
159 | R>Q | ovary [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs148548347 CA4840984 |
159 | R>W | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1587351754 CA371960348 |
161 | R>T | No |
ClinGen Ensembl |
|
|
CA4840981 rs375383458 |
163 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371960322 rs1351790415 |
165 | N>D | No |
ClinGen TOPMed |
|
|
CA4840980 rs751343169 |
166 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1287657074 CA371960285 |
171 | T>A | No |
ClinGen gnomAD |
|
|
rs764739519 CA4840976 |
172 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1301764620 CA371960268 |
173 | G>V | No |
ClinGen gnomAD |
|
|
CA183274088 rs993930033 |
176 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1397851854 CA371960240 |
177 | M>I | No |
ClinGen TOPMed |
|
|
rs768046006 CA4840973 |
178 | E>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 181 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1563782477 CA371960214 |
181 | E>K | No |
ClinGen Ensembl |
|
|
rs113794783 CA4840971 |
183 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA183274064 rs113794783 |
183 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1471271962 CA371960182 |
185 | R>S | No |
ClinGen gnomAD |
|
|
CA371960173 rs1378544364 |
186 | S>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 187 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770028905 CA4840967 |
188 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745915544 CA4840966 |
189 | V>I | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA371960137 rs1035611818 |
191 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA183274008 rs1035611818 |
191 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA371960139 rs1035611818 |
191 | T>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 192 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs545063851 CA4840964 |
193 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4840965 rs149414345 |
193 | D>G | No |
ClinGen ESP ExAC |
|
|
rs915909911 CA183273994 |
193 | D>N | No |
ClinGen gnomAD |
|
|
rs150778049 CA371960098 |
194 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1266381212 COSM1292596 CA371960096 |
195 | G>S | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA183273968 rs1002738990 |
196 | Y>C | No |
ClinGen TOPMed |
|
|
CA4840962 rs777529399 |
197 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1256315966 CA371960041 |
198 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs373326962 CA4840961 |
198 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4840960 rs747802246 |
199 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468720012 CA371960011 |
200 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 201 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754495756 CA4840958 |
202 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs190365858 CA4840957 |
203 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs186162876 CA183273942 |
205 | E>K | No |
ClinGen 1000Genomes |
|
|
CA371959875 rs1220370819 |
208 | G>* | No |
ClinGen Ensembl |
|
|
CA4840954 rs751955904 |
209 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs751955904 CA371959854 |
209 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA4840955 rs757771625 |
209 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 210 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764560930 CA183273922 |
210 | Q>P | No |
ClinGen ExAC |
|
|
CA4840952 rs764560930 |
210 | Q>R | No |
ClinGen ExAC |
|
|
CA371959817 rs1464865961 |
212 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA183273913 rs1045047522 |
213 | V>L | No |
ClinGen TOPMed |
|
|
CA371959790 rs1358458634 COSM242760 |
214 | V>A | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1375213939 CA371959791 |
214 | V>F | No |
ClinGen gnomAD |
|
|
rs1196733043 CA371959775 |
215 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs763374535 CA4840950 |
217 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs551422006 CA4840949 COSM3432014 |
218 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4840948 rs766328261 COSM1244045 |
218 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA183273887 rs551422006 |
218 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1258149184 CA371959721 |
219 | P>R | No |
ClinGen gnomAD |
|
|
CA4840947 rs759571732 |
219 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4840945 rs770828394 |
220 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs746977021 CA4840944 |
221 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4840942 rs771884458 |
222 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs761663606 CA4840922 |
223 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs774120607 CA4840921 |
224 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs867844227 CA183267015 |
224 | V>I | No |
ClinGen TOPMed |
|
|
rs768279398 CA4840919 |
226 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA4840918 rs748977290 |
226 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA4840917 rs779535287 |
227 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779535287 CA371958793 |
227 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4840916 rs769372342 |
228 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1563780282 CA371958779 |
229 | E>* | No |
ClinGen Ensembl |
|
|
rs566119692 CA4840914 |
231 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4840915 rs150699386 |
231 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA183266962 rs1003938583 |
233 | C>W | No |
ClinGen TOPMed |
|
|
rs1406221999 CA371958745 |
234 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1465101948 CA371958723 |
237 | Q>E | No |
ClinGen TOPMed |
|
|
CA371958719 rs1471742223 |
237 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs753167549 CA4840912 |
237 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs779345807 CA4840911 |
238 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA371958699 rs1401906787 |
240 | S>N | No |
ClinGen TOPMed |
|
|
rs865908791 CA371958695 |
240 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 241 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754120847 CA4840910 |
242 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs754120847 CA4840909 |
242 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA183266873 rs775354635 |
244 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs36024019 CA4840907 |
246 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4840906 rs760792800 |
247 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs750498521 CA4840905 |
248 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs551749919 CA4840904 |
250 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1348989611 CA371958616 |
252 | W>* | No |
ClinGen gnomAD |
|
|
CA4840902 rs774210320 |
258 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs201763716 CA4840901 |
259 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4840900 rs762610369 |
261 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4840898 rs147251566 |
263 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA371958524 rs1159798077 |
265 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1389560411 CA371958526 |
265 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA183266823 rs936678368 |
266 | S>I | No |
ClinGen TOPMed |
|
|
rs1456688657 CA371958501 |
268 | E>D | No |
ClinGen gnomAD |
|
|
rs1477442663 CA371958495 |
269 | F>L | No |
ClinGen TOPMed |
|
|
rs1563780191 CA371958491 |
269 | F>S | No |
ClinGen Ensembl |
|
|
CA371958464 rs1409454239 |
270 | D>E | No |
ClinGen gnomAD |
|
|
CA371958453 rs1192741628 |
271 | Y>F | No |
ClinGen gnomAD |
|
|
CA4840897 rs745434102 |
271 | Y>H | No |
ClinGen ExAC |
|
|
rs1245771213 CA371958440 |
272 | E>K | No |
ClinGen gnomAD |
|
|
rs747203470 CA183266814 |
275 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 276 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4840891 rs202190737 |
277 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4840892 rs755390954 |
277 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA4840888 rs750586739 |
278 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371958340 rs750586739 |
278 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4840887 COSM200699 rs767590580 |
278 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4840889 rs750586739 |
278 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113347680 CA183266792 |
279 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
COSM485937 rs1437622155 CA371958315 |
280 | H>Y | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1320025474 CA371958271 |
282 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1320025474 CA371958273 COSM3778823 |
282 | G>E | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA4840885 rs751541398 |
284 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA4840884 rs763919499 |
286 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1007502156 CA183266777 |
287 | G>V | No |
ClinGen Ensembl |
|
|
COSM748843 rs200193774 CA4840882 |
288 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4840880 rs777760983 |
288 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs200193774 CA4840881 |
288 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA183266742 rs891290416 |
291 | E>K | No |
ClinGen gnomAD |
|
|
rs1238355967 CA371958110 |
292 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA371958089 rs1274409636 |
294 | K>E | No |
ClinGen TOPMed |
|
|
CA371958075 rs1563780131 |
294 | K>N | No |
ClinGen Ensembl |
|
|
CA4840878 rs372498827 |
297 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1239730708 CA371958042 |
298 | R>M | No |
ClinGen gnomAD |
|
|
rs912722153 CA183266733 |
298 | R>S | No |
ClinGen TOPMed |
|
|
CA4840877 rs746470743 |
300 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA371958031 rs774972832 |
300 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA4840876 rs774972832 |
300 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4840875 rs182944429 |
301 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs182944429 CA183266676 |
301 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4840874 rs144057540 |
301 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA371958027 rs144057540 |
301 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA183266684 rs182944429 |
301 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA371958006 rs1347213745 |
304 | E>D | No |
ClinGen Ensembl |
|
|
CA4840873 rs780294176 |
305 | H>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 306 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4840872 rs756403095 |
308 | R>T | No |
ClinGen ExAC TOPMed |
|
|
rs137891532 CA4840871 |
309 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs781340771 CA4840870 |
311 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757373126 CA4840869 |
312 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA371957940 rs1358328040 |
313 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 313 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753722518 CA183266629 |
313 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs751558306 CA4840868 |
314 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA4840867 rs764154630 |
314 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1390418321 CA371957928 |
315 | F>Y | No |
ClinGen gnomAD |
|
|
rs145316939 CA4840866 |
316 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1426216135 CA371957914 |
317 | I>N | No |
ClinGen gnomAD |
|
|
rs1419485217 CA371957904 |
318 | C>* | No |
ClinGen TOPMed |
|
|
rs376042673 CA4840865 |
319 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs376042673 CA183266592 |
319 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA371957894 rs1483233284 COSM352240 |
320 | M>T | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA4840864 rs765131208 |
322 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs759366681 CA4840863 |
322 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759366681 CA371957880 |
322 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759366681 CA371957881 |
322 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4840862 rs776447590 |
323 | H>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 324 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760272225 CA4840861 |
325 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA4840859 rs772583120 |
325 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs771552266 CA4840858 |
326 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1313580086 CA371957862 |
326 | D>H | No |
ClinGen gnomAD |
|
|
rs770163608 CA4840855 |
330 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA4840854 rs746206328 |
330 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA4840853 rs781429118 |
331 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371957822 rs1587348295 |
331 | V>G | No |
ClinGen Ensembl |
|
|
CA183266546 rs781429118 |
331 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371957820 rs1307014275 |
332 | T>A | No |
ClinGen gnomAD |
|
|
rs1307014275 CA371957819 |
332 | T>S | No |
ClinGen gnomAD |
|
|
rs771134219 CA4840852 |
333 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA183266532 rs916365791 |
333 | F>S | No |
ClinGen gnomAD |
|
|
rs747175272 CA4840851 |
336 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1587348275 CA371957790 |
337 | F>L | No |
ClinGen Ensembl |
|
|
rs1352641094 CA371957772 |
339 | R>I | No |
ClinGen TOPMed |
|
|
rs752610182 CA4840848 |
340 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs752610182 CA4840849 |
340 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA4840850 rs777732345 |
340 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs190134757 CA4840846 |
341 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs190134757 CA371957762 |
341 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM200698 CA4840845 rs370150080 |
342 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA4840844 rs375791517 |
342 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4840843 rs760258559 |
344 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA4840842 rs750023998 |
344 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1230216115 CA371957738 |
345 | D>E | No |
ClinGen gnomAD |
|
|
CA4840839 rs776023519 |
345 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs148169414 CA4840840 |
345 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs148169414 CA371957741 |
345 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs148231122 CA4840837 |
347 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4840836 rs148231122 |
347 | V>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770251403 CA371957728 |
347 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4840838 rs770251403 |
347 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA371957720 rs1389284989 |
348 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1015238596 CA183266452 |
349 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1437496742 CA371957715 |
349 | G>V | No |
ClinGen TOPMed |
|
|
CA4840834 rs747204189 |
353 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4840833 COSM1094747 rs778019842 |
353 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA371957687 rs1458264001 |
354 | A>D | No |
ClinGen gnomAD |
|
|
rs772069125 CA4840832 |
354 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs772069125 CA183266437 |
354 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4840830 rs372554852 |
355 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs927809002 CA183266384 |
356 | K>R | No |
ClinGen gnomAD |
|
|
COSM603595 rs766114154 CA183266345 |
360 | V>I | lung pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA183266340 rs766114154 |
360 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4840827 rs779998671 |
366 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA183266330 rs945297080 |
367 | L>P | No |
ClinGen gnomAD |
|
|
rs750063297 CA4840825 |
368 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA4840826 rs755897217 |
368 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4840824 rs34165567 |
370 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4840821 rs765786301 |
371 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4840822 rs765786301 |
371 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301517822 CA371957576 |
371 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1301517822 CA371957578 |
371 | R>Q | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4840819 rs766687730 |
373 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202188968 TCGA novel CA371957553 |
374 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
rs1213756263 COSM1241956 CA371957556 |
374 | H>R | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| TCGA novel | 375 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4840815 rs111803056 |
377 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200631708 CA4840814 |
378 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs768788926 | 382 | K>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q8N0Z2
1 regional properties for Q8N0Z2
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Actin-like protein 7A, N-terminal | 1 - 65 | IPR031769 |
Functions
3 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| sarcomere | The repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| positive regulation of DNA-binding transcription factor activity | Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription. |
| positive regulation of Rho protein signal transduction | Any process that activates or increases the frequency, rate or extent of Rho protein signal transduction. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| protein import into nucleus | The directed movement of a protein from the cytoplasm to the nucleus. |
| transcription by RNA polymerase II | The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAPGEKESGE | GPAKSALRKI | RTATLVISLA | RGWQQWANEN | SIRQAQEPTG | WLPGGTQDSP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QAPKPITPPT | SHQKAQSAPK | SPPRLPEGHG | DGQSSEKAPE | VSHIKKKEVS | KTVVSKTYER |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GGDVSHLSHR | YERDAGVLEP | GQPENDIDRI | LHSHGSPTRR | RKCANLVSEL | TKGWRVMEQE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EPTWRSDSVD | TEDSGYGGEA | EERPEQDGVQ | VAVVRIKRPL | PSQVNRFTEK | LNCKAQQKYS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PVGNLKGRWQ | QWADEHIQSQ | KLNPFSEEFD | YELAMSTRLH | KGDEGYGRPK | EGTKTAERAK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RAEEHIYREM | MDMCFIICTM | ARHRRDGKIQ | VTFGDLFDRY | VRISDKVVGI | LMRARKHGLV |
| 370 | 380 | ||||
| DFEGEMLWQG | RDDHVVITLL | K |