A2A2Y4
PR
Gene name |
FRMD3 (EPB41L4O) |
Protein name |
FERM domain-containing protein 3 |
Names |
Band 4.1-like protein 4O, Ovary type protein 4.1, 4.1O |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:257019 |
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 A2A2Y4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-A2A2Y4-F1 | Predicted | AlphaFoldDB |
448 variants for A2A2Y4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA5101399 rs560724155 |
3 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs560724155 CA5101398 |
3 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1278554883 CA374004436 |
3 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5101397 rs750389716 |
4 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5101396 rs764894392 |
5 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1309560825 CA374004415 |
7 | C>S | No |
ClinGen TOPMed |
|
|
rs200662905 CA374004398 |
9 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200662905 CA374004397 |
9 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200662905 CA5101395 |
9 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1239585808 CA374004392 |
10 | R>K | No |
ClinGen gnomAD |
|
|
rs767904376 CA5101393 |
11 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs767904376 CA374004385 |
11 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA5101392 rs759677346 |
13 | R>G | No |
ClinGen ExAC |
|
|
CA374004375 rs1378655503 |
13 | R>K | No |
ClinGen gnomAD |
|
|
CA374004361 rs1377265212 |
15 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs142380788 CA5101390 |
15 | M>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142380788 CA5101389 |
15 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374004346 rs368561080 |
17 | M>R | No |
ClinGen ESP TOPMed |
|
|
CA195344343 rs368561080 |
17 | M>T | No |
ClinGen ESP TOPMed |
|
|
CA5101388 rs376320343 |
18 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs199702152 CA5101387 |
19 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748593287 CA5101386 |
21 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374004321 rs1361573970 |
21 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs748593287 CA5101385 |
21 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160597212 CA374004313 |
22 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA195344317 rs919284076 |
23 | S>C | No |
ClinGen TOPMed |
|
|
rs1419338009 CA374004300 |
24 | S>N | No |
ClinGen gnomAD |
|
|
rs753599775 CA195344312 |
24 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1186316591 CA374004298 |
25 | V>I | No |
ClinGen gnomAD |
|
|
CA374004291 rs1486849143 |
26 | K>Q | No |
ClinGen gnomAD |
|
|
rs746667996 CA5101382 |
26 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs746667996 CA5101381 |
26 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs757927598 CA5101379 |
29 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1299280718 CA374004263 |
30 | Q>R | No |
ClinGen TOPMed |
|
|
rs1009500763 CA195344229 |
32 | M>I | No |
ClinGen Ensembl |
|
|
rs1239811355 CA374004250 |
32 | M>V | No |
ClinGen gnomAD |
|
|
CA5101377 rs778950192 |
33 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231300141 CA374004222 |
36 | I>V | No |
ClinGen gnomAD |
|
|
rs756984550 CA5101376 |
37 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374004190 rs1312397426 |
41 | D>V | No |
ClinGen TOPMed |
|
|
rs767850984 CA5101374 |
41 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA195344212 rs1016728860 |
45 | S>F | No |
ClinGen gnomAD |
|
|
CA5101372 rs75592024 |
45 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs377055698 CA5101370 |
46 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA195344211 rs1032009809 |
47 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs765830169 CA5101368 |
49 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 53 | K>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA195282402 rs145028837 |
53 | K>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA374004017 rs1587806291 |
57 | L>R | No |
ClinGen Ensembl |
|
|
rs1353977566 CA374004015 |
58 | I>V | No |
ClinGen TOPMed |
|
|
CA5101332 rs371319021 |
60 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5101331 rs764636004 |
61 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA374003993 rs1564053809 |
61 | I>V | No |
ClinGen Ensembl |
|
|
rs767782128 CA5101328 |
66 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA5101327 rs759174324 |
68 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1192894672 CA374003897 |
74 | G>D | No |
ClinGen TOPMed |
|
|
CA5101325 rs770440183 COSM1314974 |
76 | R>C | Variant assessed as Somatic; 4.638e-05 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1379777271 CA374003884 |
76 | R>P | No |
ClinGen gnomAD |
|
|
CA374003879 rs1471296053 |
77 | Y>C | No |
ClinGen gnomAD |
|
|
rs762598572 CA5101324 |
77 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA195282399 rs372549945 |
78 | V>L | No |
ClinGen Ensembl |
|
|
rs1247826158 CA374003861 |
80 | P>A | No |
ClinGen TOPMed |
|
|
rs1182317602 CA374003859 |
80 | P>Q | No |
ClinGen gnomAD |
|
|
rs1255397868 CA374003856 |
81 | E>K | No |
ClinGen gnomAD |
|
|
rs776463620 CA5101298 |
88 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA195280644 rs935278004 |
89 | P>H | No |
ClinGen TOPMed |
|
|
rs1433061527 CA374003754 |
92 | S>P | No |
ClinGen gnomAD |
|
|
CA374003748 rs1345864669 |
93 | I>V | No |
ClinGen gnomAD |
|
|
CA374003709 rs1474917150 |
98 | K>E | No |
ClinGen TOPMed |
|
|
rs1162864615 CA373900324 |
99 | T>I | No |
ClinGen gnomAD |
|
|
CA194509458 rs866187972 |
100 | H>Y | No |
ClinGen Ensembl |
|
|
CA5101273 rs769838552 |
101 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5101272 rs748230274 |
102 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1444079303 CA373900306 |
103 | Y>H | No |
ClinGen gnomAD |
|
|
CA5101269 rs527559683 |
104 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5101268 rs780516104 |
106 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA373900256 rs1587755346 |
109 | V>G | No |
ClinGen Ensembl |
|
|
rs1554691337 CA373900261 |
109 | V>M | No |
ClinGen Ensembl |
|
|
rs778758442 CA5101265 |
114 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373900223 rs1418189942 |
114 | H>Y | No |
ClinGen gnomAD |
|
|
rs753358235 CA5101263 |
118 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA5101262 rs763666172 |
118 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 121 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 125 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 126 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1302199141 CA373900119 |
127 | L>F | No |
ClinGen TOPMed |
|
|
CA373900110 rs1313342954 |
128 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA5101236 rs761889527 |
129 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373900099 rs1314043497 |
130 | L>F | No |
ClinGen gnomAD |
|
|
rs776941033 CA5101235 |
130 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 131 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 131 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1463291 CA373900073 rs1382072364 |
134 | R>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA194507847 rs946506347 |
134 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1295970763 CA373900040 |
138 | H>R | No |
ClinGen gnomAD |
|
|
rs772773617 CA5101231 |
140 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs17854111 CA5101230 |
140 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373900017 rs1263969538 |
142 | L>M | No |
ClinGen gnomAD |
|
|
rs771351889 CA5101228 |
142 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373900007 rs1162331793 |
143 | C>R | No |
ClinGen gnomAD |
|
|
rs748855668 CA5101227 |
144 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5101224 rs747720200 |
147 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA5101225 rs755562107 |
147 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 149 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA194507832 rs964196561 |
150 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs780681530 CA5101223 |
152 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1297156262 CA373899871 |
154 | C>R | No |
ClinGen gnomAD |
|
|
CA5101222 rs199965799 |
155 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1427768730 CA373899317 |
161 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1284109909 CA373899320 |
161 | G>S | No |
ClinGen TOPMed |
|
|
rs1363420267 CA373899304 |
163 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
rs758114674 CA5101201 |
164 | D>N | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 164 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5101202 rs758114674 |
164 | D>Y | No |
ClinGen ExAC TOPMed |
|
|
CA373899291 rs1435858119 |
165 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA373899286 rs17854110 |
166 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs17854110 CA194505806 |
166 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs906615023 CA194505802 |
168 | H>D | No |
ClinGen gnomAD |
|
|
CA5101200 rs750299771 |
168 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1042424354 CA194505796 |
169 | P>L | No |
ClinGen Ensembl |
|
|
rs111374752 CA194505785 |
173 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM456159 rs111374752 CA5101196 |
173 | I>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5101195 rs752991942 |
174 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5101193 rs759733333 |
176 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373899212 rs759733333 |
176 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373899213 rs759733333 |
176 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774701784 CA5101192 |
177 | E>D | No |
ClinGen ExAC |
|
|
CA373899192 rs1314904577 |
179 | F>S | No |
ClinGen gnomAD |
|
|
rs1374147025 CA373899195 |
179 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 181 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA194505769 rs1036408068 |
181 | K>R | No |
ClinGen TOPMed |
|
|
rs1433524178 CA373899166 |
182 | Q>P | No |
ClinGen TOPMed |
|
|
rs377102269 CA5101191 |
183 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5101188 rs770074117 |
184 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770074117 CA5101189 |
184 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1587738120 CA373899055 |
190 | I>T | No |
ClinGen Ensembl |
|
|
rs1471246286 CA373899059 |
190 | I>V | No |
ClinGen gnomAD |
|
|
CA373899049 rs1413929838 |
191 | V>M | No |
ClinGen gnomAD |
|
|
rs1474862234 CA373898979 |
195 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 196 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373898907 rs1268414432 |
198 | L>F | No |
ClinGen gnomAD |
|
|
CA373898415 rs1381015595 |
199 | R>S | No |
ClinGen TOPMed |
|
|
CA5101162 rs190686750 |
202 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373898382 rs190686750 |
202 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA194498302 rs953465430 |
203 | P>L | No |
ClinGen TOPMed |
|
|
rs770868273 CA5101161 |
204 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 205 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 205 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1220162891 CA373898250 |
214 | A>S | No |
ClinGen TOPMed |
|
|
rs1437811345 CA373898226 |
216 | T>I | No |
ClinGen gnomAD |
|
|
rs780225141 CA5101156 |
221 | G>E | No |
ClinGen ExAC |
|
|
CA194498293 rs960853327 |
221 | G>R | No |
ClinGen Ensembl |
|
|
rs765675863 CA5101153 |
224 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5101154 rs750964503 |
224 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs762170760 CA5101152 |
227 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1185979326 CA373897665 |
229 | D>N | No |
ClinGen gnomAD |
|
|
rs1185979326 CA373897667 |
229 | D>Y | No |
ClinGen gnomAD |
|
|
CA373897646 rs1484277617 |
230 | S>L | No |
ClinGen gnomAD |
|
|
rs566813543 CA5101109 |
231 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA373897611 rs1215365758 |
232 | G>D | No |
ClinGen gnomAD |
|
|
rs1215365758 CA373897607 |
232 | G>V | No |
ClinGen gnomAD |
|
|
rs1587710920 CA373897595 |
233 | T>A | No |
ClinGen Ensembl |
|
|
CA194497747 rs895992024 |
233 | T>I | No |
ClinGen TOPMed |
|
|
rs867898708 CA194497743 |
234 | T>K | No |
ClinGen Ensembl |
|
|
CA373897515 rs769654659 |
236 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5101106 rs769654659 |
236 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373897500 rs1587710878 |
237 | L>F | No |
ClinGen Ensembl |
|
|
CA5101105 rs375185171 |
240 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772250679 CA5101104 |
241 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs772250679 CA5101103 |
241 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs746076882 CA5101102 |
242 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA373897328 rs1346687372 |
245 | V>L | No |
ClinGen TOPMed |
|
|
CA5101099 rs778201035 |
246 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778201035 CA5101098 |
246 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756512319 CA5101097 |
248 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444812358 CA373897212 |
249 | G>E | No |
ClinGen TOPMed |
|
|
rs1458088855 CA373897222 |
249 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 250 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373897185 rs752934853 |
250 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5101096 rs752934853 |
250 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767915126 COSM1110588 CA5101095 |
252 | R>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs767915126 CA373897157 |
252 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767915126 CA373897158 |
252 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5101094 rs202022598 |
254 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200447238 CA5101071 |
261 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1056728827 CA194497240 |
262 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA5101070 rs376710728 |
263 | K>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1587708967 CA373896366 |
264 | L>F | No |
ClinGen Ensembl |
|
|
CA373896339 rs1322047125 |
266 | F>L | No |
ClinGen gnomAD |
|
|
rs760410644 CA5101068 |
271 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA5101066 rs367835279 |
275 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5101065 rs367835279 |
275 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 276 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1376114832 CA373896211 |
277 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1196562205 CA373896189 |
279 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA373896107 rs1287981530 |
280 | K>E | No |
ClinGen TOPMed |
|
| rs1451322265 | 282 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373896078 rs1181146228 |
282 | A>T | No |
ClinGen gnomAD |
|
|
rs1182534044 CA373896061 COSM1187746 |
283 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA373896069 rs1471599712 |
283 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 285 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA194496996 rs17854112 |
287 | H>N | No |
ClinGen Ensembl |
|
|
CA5101040 rs777011372 |
287 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5101041 rs761896961 |
287 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373895978 rs1345236711 |
288 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 290 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs994714649 CA194496991 |
290 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs202143909 CA5101038 |
291 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1352933948 CA373895928 |
291 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA373895836 rs1336199649 |
296 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5101036 rs772532656 |
296 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 298 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373895789 rs1368186964 |
299 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 303 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373895706 rs1587707852 |
304 | N>K | No |
ClinGen Ensembl |
|
|
CA5101035 rs745538615 |
304 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs921277066 CA194496981 |
306 | A>D | No |
ClinGen Ensembl |
|
|
rs1017949652 CA194496979 |
307 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs778577901 CA5101034 |
308 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 310 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761877197 CA194493627 |
310 | Y>C | No |
ClinGen Ensembl |
|
|
rs1233535454 CA373894255 |
314 | S>N | No |
ClinGen TOPMed |
|
|
rs769259390 CA5101011 |
316 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA373894241 rs1587695302 |
316 | I>V | No |
ClinGen Ensembl |
|
|
rs1481536129 CA373894214 |
320 | S>A | No |
ClinGen TOPMed |
|
|
rs1175470523 CA373894189 |
323 | K>M | No |
ClinGen TOPMed |
|
|
rs569434487 CA5101007 |
323 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA5101006 rs779701415 |
324 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA5101005 rs757548840 |
325 | F>L | No |
ClinGen ExAC gnomAD |
|
| rs1341565999 | 326 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 327 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754083167 CA5101004 |
327 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA373894145 rs1230929198 |
330 | R>G | No |
ClinGen gnomAD |
|
|
CA373894131 rs1366166273 |
331 | F>L | No |
ClinGen gnomAD |
|
|
rs370741927 CA5101003 COSM1110578 |
332 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
COSM3433303 CA373894127 COSM3433302 rs1435490016 |
332 | R>Q | large_intestine Variant assessed as Somatic; 9.279e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs376954266 CA5100983 CA373894100 |
334 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1481047520 CA373894089 |
336 | K>R | No |
ClinGen TOPMed |
|
|
CA373894077 rs1340835977 |
338 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs767479443 CA5100980 |
339 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767479443 CA373894069 |
339 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373894065 COSM1110576 rs760136820 |
340 | E>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5100979 rs760136820 |
340 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs751974611 CA5100978 |
342 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1255438500 CA373894035 |
344 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 345 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5100976 rs763249143 |
346 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766794362 CA5100977 |
346 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA373894018 rs1223881415 |
347 | K>R | No |
ClinGen gnomAD |
|
|
rs1328476228 CA373894004 |
349 | Q>R | No |
ClinGen gnomAD |
|
|
CA373893984 rs769506542 |
352 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5100974 rs769506542 |
352 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373892000 rs770814755 |
359 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748410494 CA5100942 |
360 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs781220179 CA5100941 |
362 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA194490506 rs539721479 |
363 | S>G | No |
ClinGen Ensembl |
|
|
CA5100940 rs755092589 |
364 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5100939 rs372201657 COSM272147 |
364 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5100938 rs780173701 |
365 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5100937 rs367855447 |
365 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750898848 CA5100936 |
365 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA194490487 rs367855447 |
365 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA194490482 rs1029378089 |
366 | S>F | No |
ClinGen TOPMed |
|
|
rs1229895413 CA373891890 |
367 | H>Q | No |
ClinGen gnomAD |
|
|
CA5100935 rs765620864 |
367 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA194490476 rs943703988 |
368 | S>A | No |
ClinGen gnomAD |
|
|
rs1356802679 CA373891882 |
368 | S>Y | No |
ClinGen gnomAD |
|
|
rs1046874328 CA194490467 |
369 | L>S | No |
ClinGen Ensembl |
|
|
rs569516850 CA194490458 |
373 | L>F | No |
ClinGen gnomAD |
|
|
CA373891779 rs1168731195 |
374 | I>V | No |
ClinGen gnomAD |
|
|
CA373891761 rs1465695222 |
375 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA373891765 rs1465695222 |
375 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs754732127 CA5100933 |
376 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760371909 CA5100931 |
377 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA373891680 rs1587684766 |
378 | E>D | No |
ClinGen Ensembl |
|
|
rs1269506946 CA373891672 |
379 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs759583076 CA5100928 |
384 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs774389230 CA5100927 |
385 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA194490431 rs762607526 |
386 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 386 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 386 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373891522 rs1225720770 |
387 | P>R | No |
ClinGen gnomAD |
|
|
CA5100926 rs371814253 |
388 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367902496 CA5100924 |
392 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA373891272 rs1490944992 |
394 | L>V | No |
ClinGen TOPMed |
|
|
CA5100922 rs199909232 |
397 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA373898496 rs1329585340 |
398 | E>D | No |
ClinGen gnomAD |
|
|
rs376294930 CA194498288 |
400 | V>I | No |
ClinGen ESP TOPMed |
|
|
CA5100889 rs780931179 |
401 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373891168 rs780931179 |
401 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754676123 CA5100888 |
402 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs1458937080 CA373891104 |
403 | P>L | No |
ClinGen gnomAD |
|
|
rs1273516629 CA373891065 |
405 | E>* | No |
ClinGen gnomAD |
|
|
CA194498280 rs956315776 |
406 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs751174781 CA5100887 |
406 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA5100885 rs762841876 |
408 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA373890948 rs1422978002 |
409 | S>P | No |
ClinGen TOPMed |
|
|
CA5100884 rs371243946 |
410 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5100883 rs371243946 |
410 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5100881 rs376261321 |
411 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA194498271 rs376261321 |
411 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761612909 CA5100882 |
411 | P>S | No |
ClinGen ExAC |
|
|
rs774463395 CA5100878 CA5100879 |
412 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs201035156 CA5100880 |
412 | L>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1333999524 CA373890811 |
414 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA373890739 rs1468571794 |
416 | S>C | No |
ClinGen gnomAD |
|
|
CA373890697 rs1386624350 |
418 | V>L | No |
ClinGen TOPMed |
|
|
CA373890702 rs1386624350 |
418 | V>M | No |
ClinGen TOPMed |
|
|
CA373890666 rs1587611049 |
419 | K>R | No |
ClinGen Ensembl |
|
|
rs749786960 CA5100876 |
421 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs770065695 CA5100874 |
422 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5100875 rs773715934 |
422 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481118520 CA373890553 |
424 | Y>C | No |
ClinGen gnomAD |
|
|
CA194498242 rs1014433515 |
427 | P>A | No |
ClinGen TOPMed |
|
|
rs868009699 CA194498239 |
427 | P>R | No |
ClinGen Ensembl |
|
|
CA5100871 rs781682434 |
428 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754729251 CA5100870 |
429 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA5100869 rs746634200 |
429 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5100868 rs779745381 |
431 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA373890412 rs1264728153 |
431 | E>G | No |
ClinGen gnomAD |
|
|
rs757877827 CA5100867 |
433 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1353070115 | 435 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5100866 rs750341298 |
436 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA194498223 rs914843140 |
437 | E>V | No |
ClinGen TOPMed |
|
|
rs765157237 CA5100865 |
438 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs757139817 CA5100864 |
439 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs759793194 CA5100862 COSM330556 |
439 | P>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs759793194 CA5100863 |
439 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5100861 rs759793194 |
439 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757139817 CA373890292 |
439 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA194498208 rs975964669 |
442 | I>M | No |
ClinGen Ensembl |
|
|
CA194498198 rs1004082653 |
446 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA373890216 rs1457225402 |
446 | V>L | No |
ClinGen gnomAD |
|
|
rs1201513543 CA373890187 |
447 | Y>S | No |
ClinGen TOPMed |
|
|
rs1161826197 CA373890177 |
448 | N>H | No |
ClinGen gnomAD |
|
|
rs766386817 CA5100859 |
448 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1449573881 CA373890159 |
449 | P>R | No |
ClinGen gnomAD |
|
|
rs912611825 CA194498193 |
449 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA373890125 rs1182011277 |
451 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs763029264 CA5100858 |
452 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773592982 CA5100857 |
452 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 454 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373890085 rs1464440662 |
455 | P>A | No |
ClinGen gnomAD |
|
|
rs1587610621 CA373890064 |
456 | T>I | No |
ClinGen Ensembl |
|
|
CA373890020 rs1217787830 |
459 | D>E | No |
ClinGen gnomAD |
|
|
CA5100852 rs746683296 |
461 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs769105729 CA5100853 |
461 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769105729 CA373890001 |
461 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373889986 rs1384517413 |
462 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA5100851 rs779698877 |
464 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5100850 rs757852872 |
465 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA373889941 rs1295833323 |
465 | M>V | No |
ClinGen TOPMed |
|
|
rs1291162542 CA373889901 |
468 | D>N | No |
ClinGen gnomAD |
|
|
CA5100848 rs778271100 |
468 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA373889860 rs1426855078 |
470 | P>L | No |
ClinGen gnomAD |
|
|
CA373889847 rs1188094324 |
471 | S>F | No |
ClinGen gnomAD |
|
|
rs763907705 CA373889782 CA5100844 |
475 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA373889793 rs1259342129 |
475 | L>M | No |
ClinGen gnomAD |
|
|
rs182521075 CA5100842 |
477 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs182521075 CA5100843 |
477 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1264405264 CA373889749 |
478 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 478 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373889747 rs1264405264 |
478 | E>G | No |
ClinGen gnomAD |
|
|
rs974127320 CA194498155 |
479 | D>Y | No |
ClinGen Ensembl |
|
|
CA194498152 rs572422981 |
480 | T>I | No |
ClinGen 1000Genomes |
|
|
CA373889693 rs1285502875 |
482 | S>A | No |
ClinGen TOPMed |
|
|
CA5100841 rs766553221 |
483 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA373889654 rs1224755363 |
484 | E>D | No |
ClinGen TOPMed |
|
|
rs1360301229 CA373889662 |
484 | E>G | No |
ClinGen TOPMed |
|
|
VAR_048366 rs4877747 CA5100840 |
485 | D>Y | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5100836 rs376216707 |
492 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5100837 rs376216707 |
492 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765203567 CA5100838 |
492 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA194498135 rs376216707 |
492 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5100834 rs373531120 |
495 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373531120 CA373889514 |
495 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373889434 rs1168223326 |
501 | L>M | No |
ClinGen gnomAD |
|
|
rs778524664 CA5100830 |
505 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5100829 rs201583973 |
505 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749242444 CA5100828 |
506 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777625741 COSM1110570 CA5100827 |
506 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5100825 rs752602249 |
508 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5100824 COSM145428 rs200181003 |
509 | S>L | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1432622575 CA373889270 |
510 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs750575548 CA5100822 |
510 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA5100821 rs765385872 |
511 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA5100820 rs761926686 |
512 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA373889242 rs1563970832 |
512 | Y>H | No |
ClinGen Ensembl |
|
|
rs375988330 CA5100818 |
513 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs267602292 CA194498077 |
514 | I>L | No |
ClinGen Ensembl |
|
|
rs1307470090 CA373889138 |
517 | G>D | No |
ClinGen gnomAD |
|
|
CA5100814 rs759262957 |
519 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs770437210 CA5100812 |
520 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5100813 rs190298518 |
520 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373889052 rs1481357281 |
522 | N>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 523 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA194498064 rs893340036 |
524 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 526 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777257974 CA5100810 CA373888893 |
530 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1205154585 CA373888888 |
531 | L>F | No |
ClinGen TOPMed |
|
|
CA5100808 rs748007340 |
532 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1312602772 CA373888820 |
537 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5100806 rs754683766 |
540 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA5100805 rs750676241 |
542 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs558835267 CA5100803 |
546 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA373888759 rs1395624359 |
546 | L>P | No |
ClinGen gnomAD |
|
|
CA373888755 rs1334421934 |
547 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA5100801 rs764249885 |
548 | L>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 552 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs986953422 CA194498028 |
552 | S>T | No |
ClinGen Ensembl |
|
|
rs1182117779 CA373888720 |
553 | G>C | No |
ClinGen gnomAD |
|
|
rs930047489 CA194498024 |
555 | D>Y | No |
ClinGen gnomAD |
|
|
CA373888688 rs539539722 |
557 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5100796 rs539539722 |
557 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5100795 rs539539722 |
557 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201959657 CA5100794 |
558 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199704575 CA5100793 |
560 | C>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776379498 CA5100790 |
561 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 561 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5100791 rs753230861 |
561 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5100788 rs746846657 |
563 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746846657 CA5100789 |
563 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779982501 CA5100787 |
563 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1454380054 CA373888623 |
567 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA373888600 rs1398838389 |
570 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs757603279 CA5100786 |
570 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA194497999 rs996750247 |
571 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1423674606 CA373888579 |
573 | Y>C | No |
ClinGen gnomAD |
|
|
CA373888546 rs1241849074 |
577 | C>F | No |
ClinGen gnomAD |
|
|
CA373888536 rs1380907504 |
579 | L>V | No |
ClinGen gnomAD |
|
|
CA5100780 rs755502075 |
581 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1163982596 CA373888502 |
583 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA373888500 rs1221837522 |
584 | A>P | No |
ClinGen gnomAD |
|
|
CA194497971 rs751976663 |
585 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA5100779 rs751976663 |
585 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA373888483 rs1294233547 |
587 | V>I | No |
ClinGen gnomAD |
|
|
CA5100778 rs766705462 |
588 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA5100777 rs762627691 |
589 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5100775 rs764821206 |
591 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA373888458 rs764821206 |
591 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1169000939 CA373888448 |
592 | Y>C | No |
ClinGen Ensembl |
|
|
CA5100774 rs776201740 |
593 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373888433 rs1207598407 |
593 | M>R | No |
ClinGen TOPMed |
|
|
rs776201740 CA5100773 |
593 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373888378 rs1236462620 |
597 | S>L | No |
ClinGen TOPMed |
|
|
CA373888373 rs535128169 |
598 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5100772 rs535128169 |
598 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1008976663 CA194497948 |
598 | S>W | No |
ClinGen TOPMed gnomAD |
No associated diseases with A2A2Y4
No regional properties for A2A2Y4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for A2A2Y4 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| cytoskeletal protein binding | Binding to a protein component of a cytoskeleton (actin, microtubule, or intermediate filament cytoskeleton). |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| actomyosin structure 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 containing both actin and myosin or paramyosin. The myosin may be organized into filaments. |
14 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q58CU2 | EPB41L5 | Band 4.1-like protein 5 | Bos taurus (Bovine) | PR |
| Q9HCM4 | EPB41L5 | Band 4.1-like protein 5 | Homo sapiens (Human) | PR |
| Q9HCS5 | EPB41L4A | Band 4.1-like protein 4A | Homo sapiens (Human) | PR |
| Q7Z6J6 | FRMD5 | FERM domain-containing protein 5 | Homo sapiens (Human) | PR |
| O43491 | EPB41L2 | Band 4.1-like protein 2 | Homo sapiens (Human) | PR |
| Q9H4G0 | EPB41L1 | Band 4.1-like protein 1 | Homo sapiens (Human) | PR |
| P11171 | EPB41 | Protein 4.1 | Homo sapiens (Human) | PR |
| Q9Y2J2 | EPB41L3 | Band 4.1-like protein 3 | Homo sapiens (Human) | PR |
| P52963 | Epb41l4a | Band 4.1-like protein 4A | Mus musculus (Mouse) | PR |
| Q8BGS1 | Epb41l5 | Band 4.1-like protein 5 | Mus musculus (Mouse) | PR |
| Q6P5H6 | Frmd5 | FERM domain-containing protein 5 | Mus musculus (Mouse) | PR |
| Q8BHD4 | Frmd3 | FERM domain-containing protein 3 | Mus musculus (Mouse) | PR |
| Q0P4Q4 | frmd3 | FERM domain-containing protein 3 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| O57457 | epb41l4a | Band 4.1-like protein 4 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MFASCHCVPR | GRRTMKMIHF | RSSSVKSLSQ | EMRCTIRLLD | DSEISCHIQR | ETKGQFLIDH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ICNYYSLLEK | DYFGIRYVDP | EKQRHWLEPN | KSIFKQMKTH | PPYTMCFRVK | FYPHEPLKIK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EELTRYLLYL | QIKRDIFHGR | LLCSFSDAAY | LGACIVQAEL | GDYDPDEHPE | NYISEFEIFP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KQSQKLERKI | VEIHKNELRG | QSPPVAEFNL | LLKAHTLETY | GVDPHPCKDS | TGTTTFLGFT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AAGFVVFQGN | KRIHLIKWPD | VCKLKFEGKT | FYVIGTQKEK | KAMLAFHTST | PAACKHLWKC |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GVENQAFYKY | AKSSQIKTVS | SSKIFFKGSR | FRYSGKVAKE | VVEASSKIQR | EPPEVHRANI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TQSRSSHSLN | KQLIINMEPL | QPLLPSPSEQ | EEELPLGEGV | PLPKEENISA | PLISSSPVKA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AREYEDPPSE | EEDKIKEEPL | TISELVYNPS | ASLLPTPVDD | DEIDMLFDCP | SRLELEREDT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DSFEDLEADE | NAFLIAEEEE | LKEARRALSW | SYDILTGHIR | VNPLVKSFSR | LLVVGLGLLL |
| 550 | 560 | 570 | 580 | 590 | |
| FVFPLLLLLL | ESGIDLSFLC | EIRQTPEFEQ | FHYEYYCPLK | EWVAGKVHLI | LYMLGCS |