O94929
PR
Gene name |
ABLIM3 (KIAA0843, HMFN1661) |
Protein name |
Actin-binding LIM protein 3 |
Names |
abLIM-3, Actin-binding LIM protein family member 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:22885 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for O94929
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1UJS | NMR | - | A | 609-683 | PDB |
| 2DJ7 | NMR | - | A | 141-207 | PDB |
| AF-O94929-F1 | Predicted | AlphaFoldDB |
602 variants for O94929
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA361667942 rs1180330962 |
3 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 3 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361667944 rs1180330962 |
3 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3499722 rs779355841 |
5 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA3499743 rs199703082 |
6 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs199703082 CA129020022 |
6 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs780334085 CA3499744 |
7 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780334085 CA361668490 |
7 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs936746690 CA129020028 |
8 | Q>R | No |
ClinGen TOPMed |
|
|
rs370041329 CA3499746 |
11 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3499745 rs370041329 |
11 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3499747 rs781352654 |
12 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA361668542 rs1309522221 |
14 | P>Q | No |
ClinGen gnomAD |
|
|
CA3499752 rs373795437 |
15 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3499753 rs775358909 |
15 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3499751 rs373795437 |
15 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3499754 rs760699681 |
17 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3499755 rs76459072 |
19 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139686305 CA3499758 |
20 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768003190 CA3499757 |
20 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750085990 CA3499759 |
21 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA129020144 rs948269850 |
24 | Y>C | No |
ClinGen gnomAD |
|
|
CA361668602 rs948269850 |
24 | Y>S | No |
ClinGen gnomAD |
|
|
rs200588080 CA3499760 |
25 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200588080 CA361668606 |
25 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145212062 CA3499761 |
25 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs755350116 CA3499763 |
27 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA3499762 rs751870536 |
27 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA3499764 rs781592953 |
28 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748688894 CA3499765 |
29 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA361668629 rs1165267287 |
29 | T>P | No |
ClinGen TOPMed |
|
|
CA361668637 rs1213038664 |
30 | C>Y | No |
ClinGen gnomAD |
|
|
CA3499767 rs777942011 |
31 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361668642 rs777942011 |
31 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3499769 rs771240019 |
32 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA3499768 rs376609234 |
32 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs775450572 CA3499770 |
33 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA361668664 rs1581069649 |
34 | V>A | No |
ClinGen Ensembl |
|
|
CA3499772 rs768491172 |
36 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367813606 CA3499773 |
36 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361668677 rs201050224 |
37 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201050224 CA3499776 |
37 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762615218 CA3499777 |
38 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361668686 rs1561561538 |
38 | H>R | No |
ClinGen Ensembl |
|
|
rs766066779 CA3499778 |
39 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766066779 CA361668691 |
39 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210132956 CA361668730 |
44 | I>T | No |
ClinGen TOPMed |
|
|
CA3499780 rs372043551 |
48 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 49 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1159667441 CA361668778 |
51 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3499796 rs762491848 |
53 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 56 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1371865026 CA361669830 |
56 | L>P | No |
ClinGen gnomAD |
|
|
rs1223706975 CA361669832 |
57 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1224255771 CA361669846 |
59 | S>T | No |
ClinGen gnomAD |
|
|
CA361669874 rs1289088408 |
63 | F>V | No |
ClinGen gnomAD |
|
|
rs1581108116 CA361669999 |
65 | N>T | No |
ClinGen Ensembl |
|
|
rs868430620 CA129030993 |
66 | Q>H | No |
ClinGen Ensembl |
|
|
rs953866469 CA129031003 |
67 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA361670071 rs1204664020 |
69 | I>V | No |
ClinGen gnomAD |
|
|
CA361670125 rs1581108175 |
71 | T>P | No |
ClinGen Ensembl |
|
|
rs1234084033 CA361670138 |
72 | Q>* | No |
ClinGen gnomAD |
|
|
CA361670186 rs1581108203 |
74 | Y>S | No |
ClinGen Ensembl |
|
|
rs767782062 CA3499800 |
77 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs145134862 CA3499801 |
78 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1581108253 CA361670260 |
80 | T>P | No |
ClinGen Ensembl |
|
|
CA3499804 rs754389834 |
81 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3499806 rs778989066 |
81 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754389834 CA3499805 |
81 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA129031084 rs943965898 |
83 | D>G | No |
ClinGen TOPMed |
|
|
CA361670289 rs1157500368 |
83 | D>N | No |
ClinGen gnomAD |
|
|
CA3499807 rs750610592 |
84 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA361670321 rs1337886274 |
84 | S>R | No |
ClinGen gnomAD |
|
|
CA3499808 rs199548691 |
86 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1385473956 CA361670342 |
86 | R>W | No |
ClinGen gnomAD |
|
|
CA361670354 rs1314766516 |
87 | D>A | No |
ClinGen gnomAD |
|
|
CA3499809 rs780870461 |
89 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 90 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA129031125 rs373118040 |
91 | G>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs769545470 CA3499811 |
92 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3499812 rs769545470 |
92 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 94 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361670445 rs1203772502 |
94 | I>V | No |
ClinGen gnomAD |
|
|
CA3499813 rs749211850 |
95 | S>L | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 97 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759146275 CA3499816 |
98 | G>S | No |
ClinGen ExAC |
|
|
CA3499817 rs530741758 |
99 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3499818 rs548869504 |
99 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs530741758 CA361670496 |
99 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361670518 rs1561577537 |
101 | Y>F | No |
ClinGen Ensembl |
|
|
rs764209198 CA129031171 |
103 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs764536483 CA3499820 |
104 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs754406235 CA3499821 |
104 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3499822 rs762339504 |
106 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs750466880 CA3499824 |
107 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1271532805 CA361670649 |
112 | R>G | No |
ClinGen gnomAD |
|
|
rs1443698458 CA361671172 |
114 | P>A | No |
ClinGen gnomAD |
|
|
CA3499863 rs149111210 |
117 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774374268 CA3499864 |
117 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3499862 rs149111210 |
117 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361671240 rs1238055049 |
119 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1341076583 CA361671230 |
119 | D>H | No |
ClinGen TOPMed |
|
|
CA3499865 rs143160468 |
120 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA129032601 rs1048741274 |
122 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 123 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs35907283 CA3499869 VAR_050143 |
125 | G>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3499868 rs373339694 |
125 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3499870 rs750375674 |
129 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3499871 rs758224799 |
132 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA3499875 rs761953405 |
134 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs761953405 CA3499874 |
134 | S>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 135 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3499876 rs527956302 |
135 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1186380655 CA361671387 |
135 | Q>R | No |
ClinGen TOPMed |
|
|
rs944628805 CA129032655 |
137 | M>V | No |
ClinGen gnomAD |
|
|
rs770209379 CA3499877 |
138 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188310024 CA361671434 |
140 | S>N | No |
ClinGen TOPMed |
|
|
rs749832445 CA3499879 |
142 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA361671478 rs1225403103 |
143 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA129032674 rs967685531 |
146 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3499881 rs774821112 |
146 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361671505 rs967685531 |
146 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3499882 rs759655987 |
147 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA361671532 rs1241699367 |
148 | P>L | No |
ClinGen gnomAD |
|
|
CA361671547 rs1180946537 |
149 | S>R | No |
ClinGen gnomAD |
|
|
rs977807733 CA129032685 |
150 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs776879732 CA3499906 |
151 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs919195301 CA129037753 |
152 | A>T | No |
ClinGen TOPMed |
|
|
rs867462629 CA129037755 |
152 | A>V | No |
ClinGen gnomAD |
|
|
rs186503737 CA3499908 COSM1435066 |
153 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3499907 rs186503737 |
153 | G>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774442461 CA3499909 |
154 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs759481034 CA3499910 |
155 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361672053 rs1158361991 |
158 | I>F | No |
ClinGen TOPMed |
|
|
rs752099293 CA3499912 |
159 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755628611 CA3499913 |
160 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA129037864 rs969771525 |
161 | G>D | No |
ClinGen Ensembl |
|
|
CA3499915 rs753508698 |
161 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372539197 CA3499917 |
162 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372539197 CA3499916 |
162 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3499918 rs746402564 |
166 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750416514 CA129037906 |
169 | K>E | No |
ClinGen Ensembl |
|
|
rs867547111 CA129037912 |
171 | W>L | No |
ClinGen Ensembl |
|
|
CA129037932 rs758849018 |
172 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780584768 CA3499920 |
173 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780584768 CA129037945 |
173 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145102658 CA3499922 |
174 | S>R | No |
ClinGen ESP ExAC |
|
|
CA361672342 rs1170913115 |
177 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA361672359 rs1239945966 |
178 | C>G | No |
ClinGen gnomAD |
|
|
CA3499923 rs776773825 |
180 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA361672423 rs1218525599 |
181 | C>S | No |
ClinGen TOPMed |
|
| TCGA novel | 181 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754423159 CA3499925 |
183 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755541484 CA361672504 |
186 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA129037995 rs755541484 |
186 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755541484 CA3499927 |
186 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3499930 rs760173081 |
187 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA3499929 rs144591036 |
187 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361672534 rs1243512864 |
188 | E>D | No |
ClinGen gnomAD |
|
|
CA129038027 rs267600482 |
188 | E>K | No |
ClinGen Ensembl |
|
|
CA361672542 rs1446684186 |
189 | Y>C | No |
ClinGen gnomAD |
|
|
CA129038033 rs911797934 |
190 | I>F | No |
ClinGen Ensembl |
|
|
CA361672571 rs1418293390 |
191 | S>G | No |
ClinGen TOPMed |
|
|
rs1377625019 CA361672582 |
191 | S>N | No |
ClinGen TOPMed |
|
|
rs1279554423 CA361669049 |
193 | D>G | No |
ClinGen gnomAD |
|
|
CA3499959 rs755473031 |
194 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3499958 rs755473031 |
194 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755473031 CA3499960 |
194 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs894763395 CA128994257 |
199 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs749511224 CA3499963 |
201 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 205 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA128994272 rs865974980 |
214 | D>N | No |
ClinGen TOPMed |
|
|
rs144817108 CA3499966 |
215 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA128994274 rs144817108 |
215 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768683615 CA3499967 |
215 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361669415 rs1369300175 |
217 | I>M | No |
ClinGen TOPMed |
|
|
rs1019307664 CA128994291 |
219 | G>D | No |
ClinGen TOPMed |
|
|
rs767607427 CA128994287 |
219 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1477308977 CA361669453 |
223 | E>V | No |
ClinGen gnomAD |
|
|
rs1351746333 CA361670692 |
226 | G>R | No |
ClinGen TOPMed |
|
|
rs748916842 CA3499989 |
228 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770667119 CA361670722 |
230 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs770667119 CA3499990 |
230 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3499991 rs148615457 |
232 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3499992 rs116226381 |
232 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1581154402 CA361670746 |
234 | A>T | No |
ClinGen Ensembl |
|
|
CA361670754 rs1306772046 |
235 | R>K | No |
ClinGen gnomAD |
|
|
rs767983995 CA3499993 |
238 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373228808 CA3499994 |
238 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1163635237 CA361670800 CA361670799 |
241 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA3499995 rs761201116 |
242 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA361670822 rs1209791564 |
244 | T>I | No |
ClinGen gnomAD |
|
|
rs757248481 CA3499998 |
245 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1177230164 CA361670871 |
251 | L>V | No |
ClinGen gnomAD |
|
|
rs922112602 CA129004655 |
253 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs922112602 CA361673684 |
253 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1335566949 CA361673695 |
254 | S>F | No |
ClinGen TOPMed |
|
|
CA3500017 rs376872688 |
255 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361673734 rs1358978932 |
257 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA361673787 rs1400412856 |
261 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3500018 rs750660195 |
263 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA361673816 rs1296396549 |
264 | A>T | No |
ClinGen gnomAD |
|
|
CA129004666 rs370356236 |
264 | A>V | No |
ClinGen ESP TOPMed |
|
|
rs758578982 CA361673837 |
266 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs114575408 CA3500020 |
266 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758578982 CA3500019 |
266 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755871981 CA3500022 |
267 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs752537686 CA3500021 |
267 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747269067 CA3500023 |
268 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA361673877 rs1561613584 |
269 | K>R | No |
ClinGen Ensembl |
|
|
CA3500024 rs749170430 |
271 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA129004697 rs896205208 |
272 | K>* | No |
ClinGen Ensembl |
|
|
rs756807864 CA3500025 |
272 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3500044 rs750006877 |
273 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs750006877 CA361674843 |
273 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA3500046 rs779906696 |
274 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs74601944 CA3500049 |
275 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769067848 CA3500048 |
275 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs570986528 CA3500050 |
276 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361674861 rs1313500266 |
277 | S>T | No |
ClinGen TOPMed |
|
|
rs1158187061 CA361674885 |
280 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1449115415 CA361674882 |
280 | S>P | No |
ClinGen TOPMed |
|
|
rs1158187061 CA361674884 |
280 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs770251856 CA3500051 |
281 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1328438796 CA361674899 |
281 | I>T | No |
ClinGen TOPMed |
|
|
rs773679401 CA3500052 |
282 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1408421785 CA361674962 |
286 | S>Y | No |
ClinGen TOPMed |
|
|
rs763087941 CA3500053 |
287 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs770987109 CA3500055 |
288 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770987109 CA3500054 |
288 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367489604 CA361674981 |
288 | I>V | No |
ClinGen gnomAD |
|
|
rs763983946 CA3500057 |
291 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1163600600 CA361675027 |
292 | N>D | No |
ClinGen TOPMed |
|
|
rs202048675 CA3500058 |
293 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761651512 CA3500059 |
293 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765150498 CA3500060 |
295 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| rs750368924 | 296 | C>= | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361675066 rs1223711292 |
296 | C>Y | No |
ClinGen gnomAD |
|
|
CA361675967 rs1270449365 |
297 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3500076 rs775754253 |
298 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs923346520 CA129008841 |
299 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
rs201045172 CA3500077 |
303 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3500078 rs765020392 |
304 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs947957052 CA129008845 |
305 | N>D | No |
ClinGen gnomAD |
|
|
CA129008849 rs954601039 |
307 | K>Q | No |
ClinGen TOPMed |
|
|
CA3500079 rs773283655 |
307 | K>T | No |
ClinGen ExAC |
|
|
CA3500080 COSM1064124 rs762942384 |
310 | A>V | Variant assessed as Somatic; 0.0 impact. oesophagus endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 311 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3500082 rs751162589 |
312 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1303012891 CA361676309 |
312 | L>V | No |
ClinGen TOPMed |
|
|
rs1438946264 CA361676324 |
314 | K>M | No |
ClinGen TOPMed |
|
|
CA3500083 rs754479019 |
316 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA129008856 rs898423039 |
316 | K>R | No |
ClinGen Ensembl |
|
|
CA3500084 rs762472416 |
318 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3500086 rs756449768 |
320 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3500087 rs756449768 |
320 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197850966 CA361676392 |
321 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs749829462 CA3500088 |
323 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1435068 CA3500089 rs149749871 |
323 | R>H | large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 323 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779374635 CA361676452 |
325 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3500090 rs779374635 |
325 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3500091 rs745979758 |
326 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1421943410 CA361676509 |
327 | I>S | No |
ClinGen gnomAD |
|
|
CA361676518 rs1422161694 |
328 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA361676516 rs1422161694 |
328 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs368112588 CA361676592 |
331 | P>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs368112588 CA3500093 |
331 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3500094 rs556018790 |
332 | H>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767959596 CA129008927 |
332 | H>N | No |
ClinGen TOPMed |
|
|
rs145604284 CA129008958 |
336 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371689634 CA129008964 |
336 | M>T | No |
ClinGen ESP |
|
|
rs145604284 CA3500095 |
336 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361676737 rs1212832046 |
337 | S>F | No |
ClinGen TOPMed |
|
|
rs144195918 CA3500099 |
338 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202193990 CA3500097 |
338 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs759025870 CA3500100 |
339 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1298526587 CA361676822 |
340 | M>I | No |
ClinGen TOPMed |
|
|
CA3500101 rs766994899 |
340 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1168172016 CA361676846 |
342 | E>K | No |
ClinGen gnomAD |
|
|
CA3500102 rs146590132 |
348 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs182108335 CA3500122 COSM1435069 |
349 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA3500123 rs182108335 |
349 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758888157 CA3500127 |
352 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA361677963 rs1210986215 |
354 | S>F | No |
ClinGen gnomAD |
|
|
CA361677998 rs1482239995 |
356 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA3500130 rs201076202 |
357 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs114548064 CA3500129 |
357 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs569021921 CA3500142 |
359 | D>V | No |
ClinGen 1000Genomes ExAC |
|
|
rs1255780889 CA361678237 |
360 | I>T | No |
ClinGen TOPMed |
|
|
CA361678233 rs1177622107 |
360 | I>V | No |
ClinGen gnomAD |
|
|
rs148352775 CA3500144 |
362 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3500145 rs373988208 |
362 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200429652 CA361678391 |
365 | D>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3500146 rs200429652 |
365 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA129010540 rs563359601 |
365 | D>H | No |
ClinGen Ensembl |
|
|
rs140532246 CA129010550 |
366 | L>F | No |
ClinGen ESP |
|
|
rs150488528 CA3500148 |
367 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361678440 rs138526744 |
367 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1567842 CA3500149 rs138526744 |
367 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs150488528 COSM1736634 CA3500147 |
367 | R>W | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA361678478 rs1361707768 |
368 | Q>H | No |
ClinGen gnomAD |
|
|
rs539880543 CA3500151 |
370 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3500150 rs368440679 |
370 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361678555 rs1396113122 |
371 | A>D | No |
ClinGen gnomAD |
|
|
CA3500152 rs200810067 |
371 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1396113122 CA361678561 |
371 | A>V | No |
ClinGen gnomAD |
|
|
CA3500154 rs142716823 |
374 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361678675 rs746895098 |
376 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA3500155 rs746895098 |
376 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA3500156 rs768181495 |
377 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA361678834 rs1217260506 |
381 | T>I | No |
ClinGen gnomAD |
|
|
rs576555012 CA3500158 |
382 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776082744 CA3500157 |
382 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs552321551 CA3500161 |
384 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769537775 CA3500160 |
384 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 386 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3500164 rs370917930 CA3500165 |
387 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3500166 rs370917930 |
387 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767735993 CA361678990 |
389 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs767735993 CA3500167 |
389 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA361679016 rs1581215664 |
390 | T>P | No |
ClinGen Ensembl |
|
|
CA3500170 rs147351594 |
393 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1064126 rs753998757 CA3500171 |
393 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium stomach [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs114093895 CA129010709 |
397 | H>N | No |
ClinGen 1000Genomes TOPMed |
|
|
CA3500175 rs746984241 |
397 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3500174 rs779779493 |
397 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs114093895 CA129010711 |
397 | H>Y | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1017143356 CA129010724 |
398 | Y>C | No |
ClinGen TOPMed |
|
|
CA3500176 rs754951859 |
399 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3409986 rs781087991 CA3500177 COSM366584 |
400 | R>C | lung Variant assessed as Somatic; 0.0 impact. central_nervous_system [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3500178 rs747716272 |
400 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 401 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766297738 CA129011688 |
404 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs776618332 CA3500208 COSM1684860 |
405 | S>G | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1292148709 CA361679624 |
406 | G>A | No |
ClinGen gnomAD |
|
|
rs761933835 CA3500209 |
406 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs750641202 CA3500211 |
407 | R>Q | Variant assessed as Somatic; 4.644e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3500210 rs753843069 |
407 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581218509 CA361679649 |
408 | S>G | No |
ClinGen Ensembl |
|
|
rs143535938 CA129011721 |
408 | S>N | No |
ClinGen ESP TOPMed |
|
|
rs1441723792 CA361679668 |
408 | S>R | No |
ClinGen TOPMed |
|
|
rs1006879896 CA129011726 |
409 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA129011732 rs868073799 |
410 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361679728 rs1378616841 |
411 | Y>C | No |
ClinGen gnomAD |
|
|
rs759333064 CA3500212 |
412 | H>Y | No |
ClinGen ExAC |
|
|
rs201015850 CA3500213 |
414 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361679868 rs1322273379 |
416 | D>H | No |
ClinGen gnomAD |
|
|
rs1223591028 CA361679882 |
416 | D>V | No |
ClinGen gnomAD |
|
|
CA3500215 rs377370073 |
417 | V>M | No |
ClinGen ESP ExAC TOPMed |
|
|
CA361679914 rs1271071550 |
418 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3500216 rs777732988 |
418 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA3500217 rs753335721 |
420 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1487863071 CA361679950 |
420 | S>T | No |
ClinGen TOPMed |
|
|
rs1581218694 CA361679982 |
421 | T>I | No |
ClinGen Ensembl |
|
|
rs756812389 CA3500218 |
422 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3500219 rs778772533 |
423 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3500220 rs745444085 |
423 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414538930 CA361680088 |
426 | Q>E | No |
ClinGen gnomAD |
|
|
CA361680095 rs1322164529 |
427 | A>T | No |
ClinGen gnomAD |
|
|
rs772575105 CA3500221 |
427 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361680154 rs1223467689 |
429 | K>R | No |
ClinGen gnomAD |
|
|
CA3500223 rs143929547 |
430 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143929547 CA129011837 |
430 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3500225 rs769095059 |
432 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs748244697 CA3500226 |
433 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748244697 CA129011899 |
433 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361680278 rs1198747909 |
434 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1439495792 CA361680288 |
435 | A>T | No |
ClinGen gnomAD |
|
|
CA361681688 rs1171431240 |
437 | D>E | No |
ClinGen TOPMed |
|
|
rs1213746084 CA361681649 |
437 | D>N | No |
ClinGen gnomAD |
|
|
rs748597806 CA3500247 |
438 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs769885516 CA3500248 |
440 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA361681799 rs1314159034 |
440 | I>T | No |
ClinGen gnomAD |
|
|
rs984646252 CA361681834 |
442 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs148670601 COSM3697068 CA3500249 |
442 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs984646252 CA129016760 |
442 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs774619099 CA3500252 |
445 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3500251 rs368153520 |
445 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361681907 rs1425518522 |
446 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs763879831 CA361681916 |
446 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA361681908 rs1425518522 |
446 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3500255 rs776442933 |
447 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA361681954 rs144233458 |
449 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3500258 rs144233458 |
449 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3500257 rs144233458 COSM1619821 |
449 | R>Q | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM1064128 rs139404389 CA3500256 |
449 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs757971034 CA3500259 |
450 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 450 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3500276 rs773281338 |
451 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA361682722 rs1387349620 |
452 | D>N | No |
ClinGen TOPMed |
|
|
rs1241361746 CA361682757 |
453 | L>S | No |
ClinGen gnomAD |
|
|
CA129018575 rs1003728600 |
455 | T>I | No |
ClinGen gnomAD |
|
|
CA129018594 rs1033914509 |
457 | T>N | No |
ClinGen gnomAD |
|
|
CA129018602 rs868055949 |
459 | S>N | No |
ClinGen gnomAD |
|
|
CA361682893 rs1323371750 |
460 | K>I | No |
ClinGen TOPMed |
|
| TCGA novel | 461 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1049530642 CA129018606 |
463 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 464 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759188635 CA3500280 |
465 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA361683085 rs1213419794 |
466 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 466 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1581230315 CA361683288 |
472 | S>G | No |
ClinGen Ensembl |
|
|
rs753107970 CA3500282 |
472 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183369922 CA361683298 |
472 | S>T | No |
ClinGen gnomAD |
|
|
rs756456127 CA361683338 |
474 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756456127 CA3500283 |
474 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754273810 CA3500285 |
476 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA3500284 rs778317531 |
476 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA361683458 rs1434302659 |
478 | D>H | No |
ClinGen TOPMed |
|
|
CA3500288 rs746105319 |
479 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs772390412 CA3500289 |
481 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA3500290 rs780414257 |
483 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361683589 rs1252944312 |
483 | S>P | No |
ClinGen TOPMed |
|
|
CA361683637 rs1485013982 |
485 | S>P | No |
ClinGen TOPMed |
|
|
rs1257588428 CA361683715 |
488 | W>G | No |
ClinGen TOPMed |
|
|
CA3500292 rs769649718 |
489 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA129018681 rs1017046192 |
489 | T>I | No |
ClinGen gnomAD |
|
|
rs1295692341 CA361683748 |
490 | Y>D | No |
ClinGen gnomAD |
|
|
rs1295692341 CA361683756 |
490 | Y>H | No |
ClinGen gnomAD |
|
|
rs773297756 CA3500293 |
491 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1561631408 CA361683826 |
493 | S>F | No |
ClinGen Ensembl |
|
|
rs542205589 CA3500295 |
494 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773953025 CA3500296 |
495 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs758945943 CA3500297 |
496 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA361684127 rs1299394773 |
497 | P>S | No |
ClinGen gnomAD |
|
|
rs777090066 CA3500320 |
498 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA3500321 rs762073479 |
498 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 500 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3500322 rs765842596 |
501 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs531378748 CA3500323 |
503 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1279516452 CA361684228 |
504 | S>C | No |
ClinGen TOPMed |
|
|
rs1056996727 CA129019720 |
505 | G>E | No |
ClinGen Ensembl |
|
|
rs1238586995 CA361684234 |
505 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 508 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361684310 rs1348374121 |
509 | D>E | No |
ClinGen TOPMed |
|
|
rs775757552 CA3500327 |
509 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581234156 CA361684301 |
509 | D>Y | No |
ClinGen Ensembl |
|
|
CA129019748 rs1012796237 |
511 | F>I | No |
ClinGen gnomAD |
|
|
CA361684355 rs1260693743 |
512 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs200868566 CA3500328 |
512 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3500329 COSM1435071 rs148988138 |
513 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA3500330 rs369536848 COSM590631 |
513 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs369536848 CA3500331 COSM355252 |
513 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA3500332 rs745733153 |
514 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs377256213 CA3500333 COSM1186869 |
515 | M>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA361684401 rs377256213 |
515 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 516 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM109458 CA129020603 rs150639312 |
519 | Q>* | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA361685509 rs1561634585 |
519 | Q>L | No |
ClinGen Ensembl |
|
|
CA361685541 rs1281041003 |
520 | S>N | No |
ClinGen gnomAD |
|
|
CA3500368 rs750265848 |
521 | G>A | No |
ClinGen ExAC |
|
|
rs758172826 CA3500369 |
522 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3500370 rs779973726 |
524 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM396114 CA361685679 rs1186362479 |
524 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 526 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751442942 CA3500371 |
527 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs533336971 CA3500372 |
529 | E>K | No |
ClinGen 1000Genomes ExAC |
|
|
CA361685839 rs1421280227 |
530 | E>A | No |
ClinGen gnomAD |
|
|
rs932651730 CA129020645 |
530 | E>D | No |
ClinGen Ensembl |
|
|
rs780531168 CA3500373 |
531 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs949932485 CA129020671 |
533 | A>S | No |
ClinGen TOPMed |
|
|
rs747663300 CA3500374 |
533 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA129020687 rs754903810 |
534 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3500376 rs373620710 |
534 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1435072 CA3500377 rs373620710 |
534 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3500375 rs754903810 |
534 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs143754875 CA3500378 |
535 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143754875 CA3500379 |
535 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3500381 rs199889968 |
536 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1170890708 CA361686032 |
537 | S>P | No |
ClinGen TOPMed |
|
|
rs904630965 CA129020767 |
538 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA129020779 rs549316249 |
540 | D>E | No |
ClinGen 1000Genomes |
|
|
CA3500383 rs760783998 |
540 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361686098 rs1350205086 |
540 | D>Y | No |
ClinGen gnomAD |
|
|
rs764277770 CA3500384 |
541 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361686123 rs1280322060 |
541 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs752123463 CA129020831 |
542 | W>* | No |
ClinGen Ensembl |
|
|
rs567315993 CA3500387 |
543 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767468664 CA3500390 |
544 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA3500389 rs754912739 |
544 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs138587496 CA3500392 |
546 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138587496 CA3500391 |
546 | R>Q | Variant assessed as Somatic; 0.0001387 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA129020882 rs763664521 |
546 | R>W | No |
ClinGen gnomAD |
|
|
rs1394431396 CA361686261 COSM69498 |
547 | S>R | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA129020913 rs142642160 |
549 | T>A | No |
ClinGen ESP |
|
|
rs1401146462 CA361686385 |
552 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA361686405 rs114364581 |
552 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3500394 rs114364581 |
552 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1401146462 CA361686398 |
552 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA361686466 rs1160242050 |
554 | A>V | No |
ClinGen gnomAD |
|
|
rs1373461823 COSM1435073 CA361686500 |
556 | H>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs746200896 CA3500396 |
556 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746200896 CA129020943 |
556 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA129020947 rs905499532 |
558 | A>D | No |
ClinGen TOPMed |
|
|
CA361686534 rs1352049167 |
559 | G>A | No |
ClinGen gnomAD |
|
|
rs1379819156 CA361686524 |
559 | G>S | No |
ClinGen TOPMed |
|
|
CA361686554 rs1581237722 |
560 | Y>* | No |
ClinGen Ensembl |
|
|
rs1283455793 CA361686552 |
560 | Y>C | No |
ClinGen TOPMed |
|
|
rs1323864827 CA361686569 |
561 | E>D | No |
ClinGen gnomAD |
|
|
CA361686558 rs1581237735 |
561 | E>K | No |
ClinGen Ensembl |
|
|
rs776050391 CA3500398 |
562 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361686593 rs1282633127 |
563 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1446824826 CA361686599 |
563 | S>F | No |
ClinGen gnomAD |
|
|
CA3500401 rs776863639 |
565 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA3500400 rs368156451 |
565 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761988204 CA3500402 |
566 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs137925558 CA3500404 |
567 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3500427 rs760621344 |
568 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs200975346 CA129022345 |
569 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200975346 CA3500429 |
569 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM449077 rs764090826 CA3500428 |
569 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3500430 rs761389232 |
570 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1247563058 CA361687523 |
571 | H>Y | No |
ClinGen TOPMed |
|
|
rs750021946 CA3500432 |
573 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758715412 CA3500433 |
574 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs780429246 CA3500434 |
575 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3500435 rs542770294 |
576 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3500436 rs755531922 |
576 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA361687848 rs1465929390 |
578 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM1064130 rs1421226226 CA361687837 |
578 | P>S | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs367724699 CA3500451 |
579 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141615379 CA3500453 |
583 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781668092 CA3500454 |
585 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs909796161 CA361688045 |
586 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs909796161 CA129022916 |
586 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs909796161 CA129022918 |
586 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3500457 rs777867883 |
588 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs749295384 CA3500458 |
589 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
COSM3827368 COSM3827369 CA361688127 rs939973890 |
590 | R>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs939973890 CA129022927 |
590 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1486755235 CA361688130 |
590 | R>Q | No |
ClinGen gnomAD |
|
|
rs1206578438 CA361688172 |
593 | G>R | No |
ClinGen gnomAD |
|
|
CA129022929 rs972680490 |
595 | H>D | No |
ClinGen Ensembl |
|
| TCGA novel | 595 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3500459 rs771233493 |
596 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 597 | T>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3500479 rs781684954 |
597 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs536332589 CA129023674 |
597 | T>I | No |
ClinGen Ensembl |
|
|
rs781176765 CA3500480 |
598 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3500481 rs781176765 |
598 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150543954 CA361688399 |
599 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138436801 CA3500483 |
600 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1310554734 CA361688477 |
604 | H>R | No |
ClinGen TOPMed |
|
|
rs774016404 CA3500486 |
606 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770290671 CA3500485 |
606 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1287524180 CA361688502 |
607 | S>R | No |
ClinGen gnomAD |
|
|
rs767124367 CA3500488 |
609 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3500487 rs376028199 |
609 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3500490 rs201746043 |
610 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3500489 rs201746043 |
610 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3500491 rs764724028 |
612 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA361688628 rs368209611 |
616 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs116279358 CA3500494 |
616 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs116279358 CA3500493 |
616 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 618 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745448962 CA3500524 |
619 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1266563892 CA361689677 |
621 | Y>* | No |
ClinGen gnomAD |
|
|
rs1230623773 CA361689667 |
621 | Y>H | No |
ClinGen gnomAD |
|
|
CA361689750 rs1326665377 |
626 | L>Q | No |
ClinGen gnomAD |
|
|
rs1256277889 CA361689778 |
628 | V>L | No |
ClinGen TOPMed |
|
|
CA3500551 rs770230283 |
630 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1201032776 CA361689839 |
630 | T>K | No |
ClinGen gnomAD |
|
|
CA3500553 rs757936962 |
635 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771536416 CA3500554 |
636 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA361690087 rs1581251216 |
640 | V>A | No |
ClinGen Ensembl |
|
|
CA361690069 rs1409440210 |
640 | V>I | No |
ClinGen gnomAD |
|
|
rs767696094 CA3500557 |
643 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361690147 rs1165990404 |
643 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3500558 rs201757785 |
644 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201757785 CA361690174 COSM1542747 |
644 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1342743222 CA361690197 |
646 | E>* | No |
ClinGen TOPMed |
|
|
CA129024982 rs959879013 |
646 | E>G | No |
ClinGen TOPMed |
|
|
rs959879013 CA129024986 |
646 | E>V | No |
ClinGen TOPMed |
|
|
COSM2149621 CA3500579 rs371092037 |
647 | R>C | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA361691364 rs1200833676 |
647 | R>H | No |
ClinGen gnomAD |
|
|
CA361691370 rs1176751929 |
648 | H>P | No |
ClinGen TOPMed |
|
|
CA3500580 rs760845863 |
648 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773037502 CA361691375 |
649 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1581263901 CA361691388 |
651 | Q>P | No |
ClinGen Ensembl |
|
|
rs751455888 CA3500585 |
653 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1166788249 CA361691445 |
655 | Y>F | No |
ClinGen gnomAD |
|
| TCGA novel | 658 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA129028535 rs1025314130 |
660 | M>I | No |
ClinGen Ensembl |
|
|
rs1282432591 CA361691548 |
662 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1304997848 CA361691608 |
665 | F>C | No |
ClinGen gnomAD |
|
|
rs767017169 CA3500588 |
666 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767017169 CA3500587 |
666 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361691620 rs1400572792 |
666 | D>Y | No |
ClinGen gnomAD |
|
|
CA3500590 rs777551603 |
667 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3500589 rs755883271 |
667 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA361691670 rs1341393495 |
669 | A>G | No |
ClinGen gnomAD |
|
|
CA361691663 rs1294692941 |
669 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361691679 rs1345586161 |
670 | L>F | No |
ClinGen gnomAD |
|
|
CA361691711 rs1581264102 |
672 | K>E | No |
ClinGen Ensembl |
|
|
CA361691717 rs1204592615 |
672 | K>R | No |
ClinGen TOPMed |
|
|
CA361691737 rs1581264139 |
674 | N>D | No |
ClinGen Ensembl |
|
|
CA3500592 rs757571428 |
674 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1342667787 CA361691802 |
678 | K>Q | No |
ClinGen gnomAD |
|
|
rs1229349264 CA361691854 |
680 | A>V | No |
ClinGen TOPMed |
|
|
rs979930405 CA129028564 |
681 | R>Q | No |
ClinGen TOPMed |
|
|
rs779297425 CA3500593 |
681 | R>W | No |
ClinGen ExAC TOPMed |
No associated diseases with O94929
1 regional properties for O94929
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Actin-like protein 7A, N-terminal | 1 - 65 | IPR031769 |
5 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. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| lamellipodium | A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
| 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. |
2 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. |
| metal ion binding | Binding to a metal ion. |
6 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. |
| cilium assembly | The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| lamellipodium assembly | Formation of a lamellipodium, a thin sheetlike extension of the surface of a migrating cell. |
| positive regulation of protein targeting to mitochondrion | Any process that activates or increases the frequency, rate or extent of protein targeting to mitochondrion. |
| 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. |
| 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). |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNTSIPYQQN | PYNPRGSSNV | IQCYRCGDTC | KGEVVRVHNN | HFHIRCFTCQ | VCGCGLAQSG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FFFKNQEYIC | TQDYQQLYGT | RCDSCRDFIT | GEVISALGRT | YHPKCFVCSL | CRKPFPIGDK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VTFSGKECVC | QTCSQSMASS | KPIKIRGPSH | CAGCKEEIKH | GQSLLALDKQ | WHVSCFKCQT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CSVILTGEYI | SKDGVPYCES | DYHAQFGIKC | ETCDRYISGR | VLEAGGKHYH | PTCARCVRCH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QMFTEGEEMY | LTGSEVWHPI | CKQAARAEKK | LKHRRTSETS | ISPPGSSIGS | PNRVICAKVD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NEILNYKDLA | ALPKVKSIYE | VQRPDLISYE | PHSRYMSDEM | LERCGYGESL | GTLSPYSQDI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YENLDLRQRR | ASSPGYIDSP | TYSRQGMSPT | FSRSPHHYYR | SGPESGRSSP | YHSQLDVRSS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TPTSYQAPKH | FHIPAGDSNI | YRKPPIYKRH | GDLSTATKSK | TSEDISQTSK | YSPIYSPDPY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YASESEYWTY | HGSPKVPRAR | RFSSGGEEDD | FDRSMHKLQS | GIGRLILKEE | MKARSSSYAD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PWTPPRSSTS | SREALHTAGY | EMSLNGSPRS | HYLADSDPLI | SKSASLPAYR | RNGLHRTPSA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| DLFHYDSMNA | VNWGMREYKI | YPYELLLVTT | RGRNRLPKDV | DRTRLERHLS | QEEFYQVFGM |
| 670 | 680 | ||||
| TISEFDRLAL | WKRNELKKQA | RLF |