Q15027
EV
Gene name |
ACAP1 (CENTB1, KIAA0050) |
Protein name |
Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 |
Names |
Centaurin-beta-1, Cnt-b1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9744 |
EC number |
|
Protein Class |
CENTAURIN/ARF (PTHR23180) |
Descriptions
ACAP1 (ArfGAP with coiled-coil, ankyrin repeat, and PH domains protein 1) is an ARF6 GAP that acts as a key component of a defined clathrin complex for endocytic recycling. A flexible linker region between the GAP and ANK domains acts to obstruct cargo binding, with a key residue within this region (Ser-554) regulating this obstruction. The excision of the linker region results in promoting cargo binding and integrin recycling.
Autoinhibitory domains (AIDs)
Target domain |
403-525 (GAP domain) |
Relief mechanism |
PTM |
Assay |
Mutagenesis experiment, Structural analysis |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
8 structures for Q15027
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3JUE | X-ray | 230 A | A/B | 378-740 | PDB |
| 3T9K | X-ray | 230 A | A/B | 378-740 | PDB |
| 4CKG | EM | 1200 A | A/B/C/D | 1-377 | PDB |
| 4CKH | EM | 1400 A | A/B/C/D | 1-377 | PDB |
| 4F1P | X-ray | 230 A | A/B | 378-740 | PDB |
| 4NSW | X-ray | 220 A | A/B | 1-377 | PDB |
| 5H3D | EM | 1400 A | A/B/C/D | 1-377 | PDB |
| AF-Q15027-F1 | Predicted | AlphaFoldDB |
524 variants for Q15027
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs760803287 CA397841605 |
2 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8343626 rs764415476 |
2 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM158841 CA8343625 rs760803287 |
2 | T>S | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1378746072 CA397841690 |
6 | D>N | No |
ClinGen TOPMed |
|
|
rs756716611 CA287437680 COSM300511 |
8 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA397841793 rs1480220602 |
10 | C>S | No |
ClinGen gnomAD |
|
|
rs1386633797 CA397841886 |
12 | K>R | No |
ClinGen TOPMed |
|
|
rs765794966 CA8343629 |
13 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1597645848 CA397841946 |
14 | S>L | No |
ClinGen Ensembl |
|
|
CA287437681 rs908215317 |
15 | P>S | No |
ClinGen gnomAD |
|
|
CA397841950 rs908215317 |
15 | P>T | No |
ClinGen gnomAD |
|
|
rs1323809366 COSM1386187 CA397841971 |
16 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs147825679 CA8343631 |
16 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs113547153 CA8343632 |
17 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754562422 CA8343634 COSM984040 |
18 | R>* | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs202135426 CA8343635 |
18 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8343656 rs140252396 |
19 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA397842251 rs1388698946 |
20 | S>F | No |
ClinGen TOPMed |
|
|
rs1231251185 CA397842269 |
21 | I>T | No |
ClinGen gnomAD |
|
|
rs1360363649 CA397842261 |
21 | I>V | No |
ClinGen gnomAD |
|
|
CA8343658 rs376382221 |
22 | E>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1292153680 CA397842435 |
26 | A>T | No |
ClinGen gnomAD |
|
|
CA8343661 rs749113236 |
27 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA397842572 rs1240107274 |
29 | S>L | No |
ClinGen gnomAD |
|
|
CA397842654 rs757082855 |
31 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA397842688 rs1188993457 |
32 | E>D | No |
ClinGen gnomAD |
|
|
CA287437965 rs974930990 |
34 | R>C | No |
ClinGen TOPMed |
|
|
CA8343663 rs375557460 |
34 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA397842743 rs1162977664 |
35 | L>P | No |
ClinGen TOPMed |
|
|
rs150346841 CA8343681 |
38 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397845678 rs1321581321 |
41 | L>V | No |
ClinGen gnomAD |
|
|
rs1383803187 CA397845735 |
44 | G>S | No |
ClinGen TOPMed |
|
|
CA8343684 rs370473529 |
50 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM984053 rs748247131 CA8343685 |
50 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs748247131 CA8343686 |
50 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773509302 CA8343687 |
51 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1597649524 CA397846008 |
52 | Y>S | No |
ClinGen Ensembl |
|
|
CA397846079 rs1277890441 |
54 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8343689 rs771298647 |
55 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760024182 CA8343691 |
57 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA8343693 rs202157911 |
57 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760024182 CA8343692 |
57 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA8343696 rs370190619 |
58 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8343697 rs370190619 |
58 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1256701079 CA397846207 |
58 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA397846188 rs1256701079 |
58 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8343695 rs370190619 |
58 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368424729 CA397846272 |
60 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368424729 CA8343699 COSM1386190 |
60 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA8343700 rs758348902 |
61 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs200616442 CA8343702 |
62 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8343703 rs73977652 |
63 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8343704 rs777755072 |
65 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA8343705 rs749506204 |
67 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs35933585 CA8343708 VAR_048328 |
68 | R>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs143045247 CA8343709 |
68 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397846482 rs35933585 |
68 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768186751 CA8343712 |
71 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8343714 rs368659634 |
72 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA287442150 rs992629235 |
73 | E>K | No |
ClinGen Ensembl |
|
|
CA397846638 rs1452011099 |
75 | M>V | No |
ClinGen TOPMed |
|
|
CA8343718 rs145850889 |
76 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140728746 CA8343717 |
76 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751512000 CA8343719 |
77 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs541681609 CA8343720 |
77 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA397847018 rs1365779852 |
79 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs758673227 CA8343743 |
81 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA8343745 rs747336812 |
85 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8343746 rs755458303 |
88 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA8343747 rs781574569 |
89 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447385577 CA397847371 |
94 | H>Y | No |
ClinGen TOPMed |
|
|
rs747658913 CA8343749 |
95 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8343748 rs747658913 |
95 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8343776 rs760596687 |
96 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1411273081 CA397848790 |
101 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs770660851 CA287442708 |
102 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs770660851 CA287442702 |
102 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA287442710 rs1049697489 |
104 | T>I | No |
ClinGen Ensembl |
|
|
CA8343778 rs773215239 |
106 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397849052 rs1243624381 |
107 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA287442718 rs908091638 |
109 | I>V | No |
ClinGen Ensembl |
|
|
rs1282521257 CA397849213 |
110 | Q>H | No |
ClinGen gnomAD |
|
|
rs1223207900 CA397849240 |
112 | L>V | No |
ClinGen gnomAD |
|
|
CA8343779 rs201609564 |
113 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA8343780 rs201609564 |
113 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM32951 CA8343782 VAR_036178 rs759855054 |
114 | K>R | a breast cancer sample; somatic mutation breast [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt ExAC dbSNP gnomAD |
|
rs1294363762 CA397849376 |
115 | E>Q | No |
ClinGen TOPMed |
|
|
CA8343802 rs150661712 |
118 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8343803 rs200521215 |
118 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8343801 rs150661712 |
118 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754550976 CA8343805 |
119 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757840962 CA8343806 |
121 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs184747187 CA287443213 |
121 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs184747187 COSM3820485 CA8343807 |
121 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA8343808 rs749950314 |
124 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA287443217 rs757926725 |
124 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8343809 rs757926725 |
124 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746768465 CA397849909 |
125 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1493985 CA8343811 rs746768465 |
125 | R>Q | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs779701618 CA8343810 |
125 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397849918 rs1597650769 |
126 | D>G | No |
ClinGen Ensembl |
|
|
CA397849960 rs1567629281 |
127 | F>L | No |
ClinGen Ensembl |
|
|
rs1207831242 CA397849984 |
128 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1207831242 CA397849986 |
128 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA397849998 rs754740225 |
129 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_036179 COSM33389 CA8343813 rs754740225 |
129 | R>Q | a colorectal cancer sample; somatic mutation large_intestine [UniProt, Cosmic] | No |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1483145837 CA397849994 |
129 | R>W | No |
ClinGen TOPMed |
|
|
rs748026022 COSM473322 CA8343815 |
130 | G>R | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs748026022 CA397850005 |
130 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs912950671 CA287443251 |
131 | A>T | No |
ClinGen gnomAD |
|
|
CA287443258 rs990646071 |
133 | S>N | No |
ClinGen TOPMed |
|
|
CA397850141 rs1164503779 |
133 | S>R | No |
ClinGen gnomAD |
|
|
rs528029055 CA8343817 |
137 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1452905387 CA397850232 |
139 | T>I | No |
ClinGen Ensembl |
|
|
CA8343819 rs772138417 |
140 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1437893948 CA397850268 |
141 | N>S | No |
ClinGen gnomAD |
|
|
CA8343821 rs138842755 COSM2977566 |
142 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA8343822 rs764540128 |
142 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs762155212 CA8343824 |
147 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs765783272 CA8343825 |
147 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA8343827 rs757955383 |
148 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8343826 rs374334594 COSM238657 |
148 | R>W | large_intestine prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA397850474 rs1188964903 |
150 | Q>H | No |
ClinGen gnomAD |
|
|
CA397850468 rs1440662246 |
150 | Q>L | No |
ClinGen gnomAD |
|
|
CA8343829 rs747647205 |
151 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA287443303 rs747647205 |
151 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs923081541 CA287443305 |
152 | A>T | No |
ClinGen gnomAD |
|
|
CA397850514 rs1340010928 |
152 | A>V | No |
ClinGen gnomAD |
|
|
CA397850602 rs1473298807 |
157 | A>T | No |
ClinGen TOPMed |
|
|
CA287443318 rs931865299 |
157 | A>V | No |
ClinGen Ensembl |
|
|
CA397850621 rs1366160096 |
158 | A>S | No |
ClinGen TOPMed |
|
|
rs1410193893 CA397850649 |
160 | R>K | No |
ClinGen gnomAD |
|
|
rs149368483 CA8343831 |
161 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397850678 rs1257459807 |
162 | A>T | No |
ClinGen TOPMed |
|
|
CA287443337 rs755948513 |
163 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA8343833 rs755948513 |
163 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA8343834 rs374720398 |
163 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1597650929 CA397850735 |
166 | Y>D | No |
ClinGen Ensembl |
|
|
rs775769687 CA8343837 |
167 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8343836 COSM1493984 rs772255797 |
167 | R>W | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs747229410 CA8343838 |
168 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs200252453 CA8343840 |
169 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769001161 CA8343839 |
169 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1037353394 CA287443346 |
170 | A>G | No |
ClinGen TOPMed |
|
|
rs1341052117 CA397850890 |
173 | Y>F | No |
ClinGen TOPMed |
|
|
rs781505892 CA8343859 |
177 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA397851016 rs1202358801 |
177 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA397851033 rs770174841 |
178 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8343860 rs748356857 |
178 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA8343862 rs773510903 |
179 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275258303 CA397851068 |
182 | D>H | No |
ClinGen TOPMed |
|
|
rs763450413 CA8343863 |
185 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8343864 rs771432742 |
188 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8343865 rs773793983 |
189 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA397851177 rs1462685208 |
191 | F>C | No |
ClinGen gnomAD |
|
|
rs759069816 CA8343866 |
191 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs761728317 CA8343891 |
193 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA287443601 rs1036301487 |
194 | R>C | No |
ClinGen TOPMed |
|
|
rs1036301487 CA397851250 |
194 | R>G | No |
ClinGen TOPMed |
|
|
CA8343892 rs538307560 |
194 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA397851291 rs1250371049 |
196 | V>A | No |
ClinGen gnomAD |
|
|
CA8343893 rs139824918 |
200 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139824918 CA8343894 |
200 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1013625941 CA287443616 |
200 | A>V | No |
ClinGen Ensembl |
|
|
rs1254227668 CA397851355 |
201 | T>I | No |
ClinGen gnomAD |
|
|
rs767632270 CA8343895 |
202 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA397851374 rs1166010125 |
203 | F>L | No |
ClinGen gnomAD |
|
|
rs752724563 CA8343896 |
205 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1161143087 CA397851439 |
207 | H>Y | No |
ClinGen gnomAD |
|
|
rs373061856 CA8343897 |
211 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA287443618 rs375685602 |
211 | S>R | No |
ClinGen Ensembl |
|
|
rs147441123 CA8343899 |
212 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs34807059 CA8343898 |
212 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs76182115 CA287443637 |
214 | S>A | No |
ClinGen Ensembl |
|
|
rs894039020 CA287443646 |
215 | Q>H | No |
ClinGen gnomAD |
|
|
rs1318019972 CA397851562 |
216 | Y>C | No |
ClinGen gnomAD |
|
|
rs779305296 CA8343901 |
216 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs779305296 CA287443655 |
216 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1567629594 CA397851568 |
217 | R>G | No |
ClinGen Ensembl |
|
|
rs746367494 CA8343902 |
217 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1254327243 CA397851586 |
218 | K>N | No |
ClinGen gnomAD |
|
|
CA287443677 rs1009757008 |
219 | E>K | No |
ClinGen Ensembl |
|
|
rs772458780 CA8343903 |
221 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397851607 rs1157141806 |
221 | G>S | No |
ClinGen TOPMed |
|
|
CA8343905 rs746523412 COSM1386191 |
222 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1216419642 CA397851716 |
225 | H>N | No |
ClinGen gnomAD |
|
|
rs1296032474 CA397851863 |
231 | S>L | No |
ClinGen gnomAD |
|
|
rs867487940 CA287443746 |
232 | A>S | No |
ClinGen Ensembl |
|
|
rs971965782 CA287443755 |
233 | R>* | No |
ClinGen Ensembl |
|
|
rs780457256 CA8343923 |
233 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1387768412 CA397851907 |
234 | E>Q | No |
ClinGen gnomAD |
|
|
rs1167994392 CA397852001 |
237 | D>G | No |
ClinGen gnomAD |
|
|
rs1318820640 CA397851988 |
237 | D>N | No |
ClinGen TOPMed |
|
|
CA287443757 rs765418644 |
238 | M>K | No |
ClinGen gnomAD |
|
|
CA397852086 rs1163083552 |
240 | Q>R | No |
ClinGen gnomAD |
|
|
rs919213408 CA397852092 |
241 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1320406090 CA397852108 |
242 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs750322513 CA8343926 |
243 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA397852201 rs1270864920 |
247 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs868169320 CA287443778 |
248 | K>N | No |
ClinGen Ensembl |
|
|
rs1208436606 CA397852808 |
249 | E>K | No |
ClinGen TOPMed |
|
|
CA397852869 rs1277281083 |
251 | G>D | No |
ClinGen gnomAD |
|
|
rs1263913830 CA397852919 |
253 | E>V | No |
ClinGen TOPMed |
|
|
CA8343940 rs549313700 |
254 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs938039907 CA397853012 |
255 | P>S | No |
ClinGen gnomAD |
|
|
CA287443953 rs938039907 |
255 | P>T | No |
ClinGen gnomAD |
|
|
rs1472074947 CA397853177 |
260 | R>K | No |
ClinGen gnomAD |
|
|
CA397853287 rs1181880490 |
263 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA397853309 rs1181880490 |
263 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA397853313 rs1391934065 |
264 | G>R | No |
ClinGen TOPMed |
|
|
rs1410263141 CA397853339 |
265 | G>S | No |
ClinGen gnomAD |
|
|
CA8343941 rs750760122 |
275 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397853621 rs1402136406 |
276 | A>S | No |
ClinGen gnomAD |
|
|
CA397853728 rs1351637025 |
278 | N>D | No |
ClinGen gnomAD |
|
|
rs148480413 CA8343942 |
278 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1376239447 CA397853744 |
279 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA397853822 rs1409488314 |
282 | T>I | No |
ClinGen gnomAD |
|
|
rs1409488314 CA397853819 |
282 | T>N | No |
ClinGen gnomAD |
|
|
rs1337371407 CA397853840 |
283 | W>* | No |
ClinGen gnomAD |
|
|
rs1239521413 CA397853864 |
284 | S>I | No |
ClinGen gnomAD |
|
|
CA397853871 rs1386213423 |
284 | S>R | No |
ClinGen gnomAD |
|
|
CA8343958 rs765340254 |
286 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA287444854 rs902413345 |
286 | R>H | No |
ClinGen gnomAD |
|
|
rs765340254 CA397854409 |
286 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397854522 rs1247136540 |
287 | W>* | No |
ClinGen gnomAD |
|
|
rs1597652844 CA397854541 |
288 | F>V | No |
ClinGen Ensembl |
|
|
CA397854669 rs1461729250 |
292 | S>G | No |
ClinGen gnomAD |
|
|
CA8343961 rs763292897 |
293 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs142630765 CA8343962 |
296 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1597652870 CA397854900 |
299 | K>Q | No |
ClinGen Ensembl |
|
|
rs1597652872 CA397854904 |
299 | K>T | No |
ClinGen Ensembl |
|
|
CA397854967 rs999830153 |
300 | K>N | No |
ClinGen gnomAD |
|
|
CA397855085 rs1597652890 |
302 | K>R | No |
ClinGen Ensembl |
|
|
CA8343981 rs760010798 |
304 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA8343982 rs35144635 |
306 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA397855524 rs1357009845 |
307 | V>A | No |
ClinGen gnomAD |
|
|
CA8343983 rs753237133 |
307 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA8343984 rs756746860 |
308 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs79280279 CA287444977 |
310 | D>G | No |
ClinGen Ensembl |
|
|
CA397855604 rs1274254555 |
310 | D>H | No |
ClinGen gnomAD |
|
|
CA8343985 rs368692143 |
313 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM984062 CA287444982 rs1017836179 |
313 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA397856008 rs1199943484 |
317 | V>L | No |
ClinGen gnomAD |
|
|
rs1199943484 CA397856003 |
317 | V>M | No |
ClinGen gnomAD |
|
|
rs1255616112 CA397856105 COSM3820487 |
319 | L>F | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA397856116 rs1454023858 |
319 | L>P | No |
ClinGen gnomAD |
|
|
CA397856174 rs1446930169 |
320 | C>W | No |
ClinGen TOPMed |
|
|
CA397856302 rs1476321829 |
323 | S>L | No |
ClinGen gnomAD |
|
|
rs1305110575 CA397856291 |
323 | S>P | No |
ClinGen gnomAD |
|
|
rs1287359120 CA397856347 |
324 | E>D | No |
ClinGen TOPMed |
|
|
rs756808757 COSM1679463 CA8343987 |
326 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1394957969 CA397856378 |
326 | R>W | No |
ClinGen gnomAD |
|
|
CA397856493 rs1597653063 |
328 | C>S | No |
ClinGen Ensembl |
|
|
CA397856628 rs1307001599 |
333 | S>F | No |
ClinGen gnomAD |
|
|
COSM1679464 rs1417233389 CA397856690 |
335 | S>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs997518977 CA287444993 |
336 | K>Q | No |
ClinGen TOPMed |
|
|
CA397858342 rs1440553253 |
339 | L>F | No |
ClinGen TOPMed |
|
|
rs759890204 CA8343999 |
346 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759890204 CA8344000 |
346 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs959946847 CA287446010 |
346 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs140784794 CA8344002 |
348 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867721457 CA287446012 COSM1684861 |
351 | W>* | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs867721457 CA397858788 |
351 | W>C | No |
ClinGen TOPMed |
|
|
CA397858809 rs1378729472 |
352 | V>I | No |
ClinGen TOPMed |
|
|
rs1300286695 CA397858841 |
353 | S>G | No |
ClinGen gnomAD |
|
|
CA397858908 rs1597653344 |
354 | A>V | No |
ClinGen Ensembl |
|
|
CA8344004 rs372953627 |
355 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1234250381 CA397858957 |
356 | Q>* | No |
ClinGen gnomAD |
|
|
rs1301333966 CA397858990 |
357 | S>N | No |
ClinGen gnomAD |
|
|
rs756756826 CA8344005 |
358 | S>C | No |
ClinGen ExAC TOPMed |
|
|
CA397859152 rs1350217422 |
360 | A>S | No |
ClinGen gnomAD |
|
|
rs764702285 CA8344006 |
362 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143239962 CA8344007 |
367 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143239962 CA287446025 |
367 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8344008 rs758111510 |
367 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397859532 rs1158489431 |
369 | D>E | No |
ClinGen TOPMed |
|
|
CA397859495 rs1178610195 |
369 | D>N | No |
ClinGen gnomAD |
|
|
CA8344009 rs779756812 |
370 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1357929507 CA397859589 |
371 | S>G | No |
ClinGen gnomAD |
|
|
rs754824750 CA8344013 |
373 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8344011 rs547368787 |
373 | R>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1182015309 CA397859724 |
375 | P>T | No |
ClinGen TOPMed |
|
|
CA287446033 rs986659569 |
376 | G>D | No |
ClinGen Ensembl |
|
|
rs1454278299 CA397859799 |
377 | Q>K | No |
ClinGen gnomAD |
|
|
CA8344038 rs780387671 |
378 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA397860035 rs1317724757 |
378 | G>D | No |
ClinGen gnomAD |
|
|
CA397860037 rs1317724757 |
378 | G>V | No |
ClinGen gnomAD |
|
|
CA397860113 rs1433002344 |
381 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1567630851 CA397860150 |
383 | A>V | No |
ClinGen Ensembl |
|
|
CA397860188 rs1457600540 |
385 | G>S | No |
ClinGen TOPMed |
|
|
rs1270920363 CA397860233 |
386 | S>F | No |
ClinGen gnomAD |
|
|
CA397860293 rs762311586 |
389 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA8344042 rs762311586 |
389 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA287446071 rs894658081 |
393 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA8344043 rs770214951 |
395 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs771049715 CA8344044 |
398 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1262437044 CA397860648 |
399 | R>K | No |
ClinGen TOPMed |
|
|
rs762483497 COSM1130174 CA8344045 |
401 | P>S | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA8344046 rs140256517 |
402 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8344047 rs751191504 |
403 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474050169 CA397860802 |
403 | G>R | No |
ClinGen gnomAD |
|
|
rs751191504 CA397860811 |
403 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397860815 rs145239336 |
404 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145239336 CA8344048 |
404 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8344049 rs767344218 |
405 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8344053 rs753865344 |
407 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA8344052 rs144821659 |
407 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8344051 rs144821659 |
407 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8344054 rs758525557 |
408 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA397860952 rs1413208245 |
409 | A>T | No |
ClinGen gnomAD |
|
|
rs780336249 CA8344055 |
410 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs747250519 CA8344056 |
411 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1034152904 CA287446102 |
418 | A>V | No |
ClinGen TOPMed |
|
|
CA8344059 rs748481870 |
423 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8344061 rs199814839 |
424 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8344060 rs138343781 |
424 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1423035615 CA397861680 |
425 | E>G | No |
ClinGen TOPMed |
|
|
CA8344062 COSM1303300 rs749843922 |
425 | E>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs774099872 CA287446118 |
428 | P>L | No |
ClinGen gnomAD |
|
|
rs1597653650 CA397861907 |
430 | W>G | No |
ClinGen Ensembl |
|
|
CA397861983 rs1478764660 |
433 | I>L | No |
ClinGen TOPMed |
|
|
CA397862170 rs1394622535 |
436 | G>A | No |
ClinGen gnomAD |
|
|
rs1597653662 CA397862234 |
438 | T>P | No |
ClinGen Ensembl |
|
|
CA397862346 rs1597653675 |
440 | C>* | No |
ClinGen Ensembl |
|
|
CA8344068 rs376167360 |
445 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1273956697 CA397863319 |
449 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1478005351 CA397863361 |
449 | S>N | No |
ClinGen gnomAD |
|
|
CA397863369 rs1163980109 |
449 | S>R | No |
ClinGen gnomAD |
|
|
COSM1386221 rs143351258 CA287446513 |
454 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
CA397863703 rs1325986675 |
457 | V>A | No |
ClinGen gnomAD |
|
|
CA397863721 rs1380039244 |
458 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA397863712 rs996571307 |
458 | R>W | No |
ClinGen gnomAD |
|
|
CA397863889 rs1297193144 |
462 | L>F | No |
ClinGen gnomAD |
|
|
CA397863870 rs1297193144 |
462 | L>I | No |
ClinGen gnomAD |
|
|
CA397864092 rs887214875 |
466 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1477902401 CA397864160 |
469 | L>Q | No |
ClinGen gnomAD |
|
|
CA8344097 rs754216751 |
470 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757592333 CA8344116 |
472 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA397864399 rs1249673339 |
473 | M>L | No |
ClinGen gnomAD |
|
|
CA287446596 rs934840687 |
473 | M>T | No |
ClinGen Ensembl |
|
|
CA8344117 rs779388395 |
474 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA8344118 rs750887506 |
479 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362980158 CA397864905 |
483 | Q>H | No |
ClinGen gnomAD |
|
|
CA8344120 rs371306170 |
488 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768382654 CA8344122 |
488 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8344121 rs371306170 |
488 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397865110 rs1433477286 |
489 | V>A | No |
ClinGen TOPMed |
|
|
CA397865097 rs1597654450 |
489 | V>M | No |
ClinGen Ensembl |
|
|
rs1354434560 CA397865258 |
492 | M>I | No |
ClinGen gnomAD |
|
|
rs769462939 CA8344125 |
492 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA8344124 rs747852301 |
492 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1233667639 CA397865320 |
494 | V>L | No |
ClinGen gnomAD |
|
|
rs1350353034 CA397865438 |
497 | P>T | No |
ClinGen gnomAD |
|
|
rs200371266 CA8344127 |
498 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775502208 CA8344129 |
500 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1196900372 CA397865630 |
503 | R>Q | No |
ClinGen TOPMed |
|
|
rs932309652 CA287446626 |
503 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA397865880 rs1468014295 |
506 | K>E | No |
ClinGen gnomAD |
|
|
CA287446673 rs202243905 |
508 | A>D | No |
ClinGen 1000Genomes |
|
|
CA397866036 rs1211238793 |
509 | W>* | No |
ClinGen gnomAD |
|
|
CA397866055 rs1211238793 |
509 | W>C | No |
ClinGen gnomAD |
|
|
CA397866029 rs1567631443 |
509 | W>L | No |
ClinGen Ensembl |
|
|
rs747800806 CA8344143 |
511 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs777376993 CA8344146 |
512 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs777376993 CA8344145 |
512 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA397866236 rs1416956799 |
513 | K>E | No |
ClinGen gnomAD |
|
|
CA8344148 rs774245075 |
515 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397866362 rs1567631468 |
516 | E>K | No |
ClinGen Ensembl |
|
|
CA8344150 rs369325519 |
518 | K>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8344151 rs371847650 |
518 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201511359 CA8344153 |
521 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA397866679 rs1360159573 |
523 | L>P | No |
ClinGen gnomAD |
|
|
CA8344155 rs773406863 |
524 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1278648339 COSM179720 CA397866693 |
524 | P>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs766898275 CA8344157 |
527 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1451616831 CA397866803 |
527 | R>Q | No |
ClinGen gnomAD |
|
|
CA8344158 rs752100547 |
528 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA397866883 rs755610469 |
529 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8344159 rs755610469 |
529 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767071679 CA8344160 COSM1386222 |
529 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1349085056 CA397866887 |
530 | R>G | No |
ClinGen TOPMed |
|
|
rs1424873229 CA397866892 |
530 | R>K | No |
ClinGen gnomAD |
|
|
rs752266980 CA8344161 |
531 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs866671212 CA287446699 |
531 | G>S | No |
ClinGen Ensembl |
|
|
CA8344162 rs755676233 |
532 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs944902011 CA287446701 |
533 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
VAR_048329 rs35019942 CA8344163 |
533 | R>W | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA8344164 rs748937543 |
534 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA397867006 rs748937543 |
534 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8344165 rs757055997 |
535 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1181538 CA8344166 rs778742775 |
535 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA397867093 rs1338679013 |
536 | P>R | No |
ClinGen TOPMed |
|
|
CA397867113 rs1231233896 |
537 | R>M | No |
ClinGen gnomAD |
|
|
CA8344169 rs772007190 |
538 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA397867127 rs772007190 |
538 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA287446710 rs373008424 |
538 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA8344172 rs769804968 |
539 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs922219096 CA287446721 |
540 | P>A | No |
ClinGen gnomAD |
|
|
rs1485525430 CA397867221 |
540 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA8344174 rs763142979 |
541 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1000626784 CA287446725 |
542 | V>L | No |
ClinGen TOPMed |
|
|
CA8344175 rs764835032 |
543 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1158058608 CA397867323 |
543 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1421610388 CA397867359 |
544 | P>S | No |
ClinGen gnomAD |
|
|
CA397867396 rs1159410192 |
545 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1159410192 CA397867388 |
545 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs749927164 CA287446736 |
546 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749927164 CA8344176 |
546 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1386150116 CA397867517 |
548 | I>V | No |
ClinGen gnomAD |
|
|
rs752111326 CA8344179 |
550 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs760063972 CA8344178 |
550 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8344177 rs760063972 |
550 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8344181 rs763564538 |
551 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8344180 rs760206336 |
551 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA287446744 rs758036470 |
552 | P>S | No |
ClinGen gnomAD |
|
|
CA397867728 rs1279101979 |
554 | S>N | No |
ClinGen gnomAD |
|
|
rs867095949 CA287446746 |
558 | K>N | No |
ClinGen Ensembl |
|
|
CA8344182 rs753520276 |
559 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397868004 rs1285189292 |
560 | E>Q | No |
ClinGen TOPMed |
|
|
rs772607998 CA8344197 |
561 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1055232307 CA287447068 |
562 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA397869565 rs1055232307 |
562 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs916970760 CA287447077 COSM460238 |
563 | S>F | cervix [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs539663151 CA8344201 |
565 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1201203093 CA397869682 |
566 | L>Q | No |
ClinGen gnomAD |
|
|
rs764899503 CA8344203 |
567 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs750114870 CA8344204 |
568 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA8344205 rs758166656 |
569 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs751510898 CA8344207 |
571 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397869887 rs1295229946 |
572 | G>A | No |
ClinGen TOPMed |
|
|
rs1364336849 COSM170199 CA397870037 |
577 | R>* | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs192044976 CA8344211 |
577 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs192044976 COSM984069 CA8344210 |
577 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs749403152 CA8344213 |
578 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397870113 rs1463950587 |
581 | H>Y | No |
ClinGen TOPMed |
|
|
CA397870138 rs1219845128 |
582 | P>S | No |
ClinGen gnomAD |
|
|
rs746145423 CA8344217 |
583 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA287447112 rs760366396 |
584 | S>C | No |
ClinGen Ensembl |
|
|
rs891746112 CA287447123 |
587 | T>I | No |
ClinGen Ensembl |
|
|
rs1268285279 CA397870378 |
589 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8344219 rs775718094 |
590 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA397870564 rs1456496121 |
596 | A>T | No |
ClinGen gnomAD |
|
|
CA287447137 rs773062317 |
599 | N>I | No |
ClinGen Ensembl |
|
|
rs1478030920 CA397870709 |
602 | N>Y | No |
ClinGen gnomAD |
|
|
CA8344222 rs762488840 |
604 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1429988416 CA397870843 |
607 | N>S | No |
ClinGen TOPMed |
|
|
CA397870942 rs1167051611 |
610 | P>L | No |
ClinGen TOPMed |
|
|
CA397870932 rs1167051611 |
610 | P>Q | No |
ClinGen TOPMed |
|
|
rs567929529 CA287447145 |
613 | Q>E | No |
ClinGen 1000Genomes |
|
|
rs1597655229 CA397871006 |
613 | Q>H | No |
ClinGen Ensembl |
|
|
rs1383759251 CA397871022 |
614 | A>S | No |
ClinGen gnomAD |
|
|
CA8344223 rs776165000 |
615 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8344224 rs761279251 |
617 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1209856500 CA397871275 |
618 | N>T | No |
ClinGen gnomAD |
|
|
CA8344242 rs141127717 |
619 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA397871397 rs1597655755 |
623 | C>G | No |
ClinGen Ensembl |
|
|
CA8344245 rs772713426 |
624 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA8344244 rs769289872 |
624 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747095875 CA287447791 |
625 | F>L | No |
ClinGen gnomAD |
|
|
CA8344246 rs762534928 |
630 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1175780491 CA397871594 |
632 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs765971139 CA8344247 |
632 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303894268 CA397871643 |
634 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1467901959 CA397871634 |
634 | N>S | No |
ClinGen gnomAD |
|
|
CA8344250 rs370193152 |
636 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8344249 rs370193152 |
636 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs923222627 CA287447797 |
639 | A>V | No |
ClinGen Ensembl |
|
|
rs1444630591 CA397871812 |
641 | R>W | No |
ClinGen gnomAD |
|
|
CA397871862 rs1311611701 |
643 | P>L | No |
ClinGen gnomAD |
|
|
rs756191239 CA8344252 |
648 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1313669279 CA397872019 |
651 | G>A | No |
ClinGen gnomAD |
|
|
rs973576255 CA287447803 |
651 | G>S | No |
ClinGen TOPMed |
|
|
CA8344253 rs765345757 |
652 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8344254 rs750548898 |
653 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs760636497 CA8344269 |
656 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760636497 CA397872245 |
656 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760636497 CA8344270 |
656 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8344271 rs753863677 |
659 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA287447885 rs905482741 |
663 | G>E | No |
ClinGen Ensembl |
|
|
rs766536846 CA8344273 |
664 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8344275 rs550794555 |
666 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781478005 CA8344276 |
668 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA397872828 rs1425014135 |
669 | R>Q | No |
ClinGen gnomAD |
|
|
CA287447909 rs139217549 |
670 | D>H | No |
ClinGen ESP |
|
|
CA8344278 rs756574872 |
672 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs944273624 CA287447933 |
674 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1597655955 CA397873187 |
675 | D>A | No |
ClinGen Ensembl |
|
|
CA397873261 rs1297832674 |
676 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8344280 rs149948108 |
678 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1372244168 CA397873363 |
680 | A>T | No |
ClinGen TOPMed |
|
|
CA397873452 rs1401645627 |
682 | E>A | No |
ClinGen gnomAD |
|
|
rs1170730852 CA397873435 |
682 | E>Q | No |
ClinGen TOPMed |
|
|
rs1020454350 CA287447983 |
684 | A>G | No |
ClinGen TOPMed |
|
|
CA287448015 rs1020454350 |
684 | A>V | No |
ClinGen TOPMed |
|
|
CA8344283 rs745449461 |
685 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA397873618 rs1430504382 |
686 | A>T | No |
ClinGen gnomAD |
|
|
CA397875643 rs1459157700 |
693 | R>* | No |
ClinGen gnomAD |
|
|
rs567059211 CA287448479 |
693 | R>Q | No |
ClinGen Ensembl |
|
|
rs867757154 CA287448481 |
695 | A>T | No |
ClinGen gnomAD |
|
|
CA8344317 rs372020127 |
699 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA397875886 rs1266339377 |
700 | A>D | No |
ClinGen TOPMed |
|
|
rs375180022 CA8344319 |
700 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA397876136 rs1231193027 |
705 | G>A | No |
ClinGen gnomAD |
|
|
rs1340841122 CA397876161 |
706 | Q>* | No |
ClinGen gnomAD |
|
|
rs757679021 CA8344322 |
706 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs35985803 CA8344323 |
707 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750919984 CA8344324 |
708 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA287448694 rs1037465303 |
709 | D>E | No |
ClinGen Ensembl |
|
|
rs1165496909 CA397876557 |
709 | D>Y | No |
ClinGen gnomAD |
|
|
rs1429114619 COSM140782 CA397876802 |
714 | D>E | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA397876841 rs1186205047 |
715 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1459001517 CA397876879 |
716 | F>L | No |
ClinGen gnomAD |
|
|
rs751164559 CA8344347 |
716 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA397877055 rs780856603 |
722 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8344349 rs780856603 |
722 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs906489143 CA287448711 |
727 | P>L | No |
ClinGen Ensembl |
|
|
rs747776235 CA8344350 |
728 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA397877223 rs747776235 |
728 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8344351 rs755878859 |
732 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA8344352 rs143279009 |
734 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8344354 rs200864606 |
736 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8344353 rs200864606 |
736 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA397877568 rs1315963884 |
739 | T>A | No |
ClinGen gnomAD |
|
|
rs776857228 CA8344358 |
740 | L>P | No |
ClinGen ExAC gnomAD |
No associated diseases with Q15027
5 regional properties for Q15027
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Arf GTPase activating protein | 405 - 527 | IPR001164 |
| domain | Pleckstrin homology domain | 265 - 362 | IPR001849 |
| repeat | Ankyrin repeat | 588 - 671 | IPR002110-1 |
| repeat | Ankyrin repeat | 672 - 702 | IPR002110-2 |
| domain | BAR domain | 5 - 237 | IPR004148 |
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR23180 | CENTAURIN/ARF |
| PANTHER Subfamily | PTHR23180:SF197 | ARF-GAP WITH COILED-COIL, ANK REPEAT AND PH DOMAIN-CONTAINING PROTEIN 1 |
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| recycling endosome membrane | The lipid bilayer surrounding a recycling endosome. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
| metal ion binding | Binding to a metal ion. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
15 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O97902 | ASAP1 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 | Bos taurus (Bovine) | SS |
| A5PK26 | ACAP1 | Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 | Bos taurus (Bovine) | SS |
| A1Z7A6 | Asap | ArfGAP with SH3 domain, ANK repeat and PH domain-containing protein | Drosophila melanogaster (Fruit fly) | SS |
| O43150 | ASAP2 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 | Homo sapiens (Human) | SS |
| Q8TDY4 | ASAP3 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 | Homo sapiens (Human) | SS |
| Q9ULH1 | ASAP1 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 | Homo sapiens (Human) | EV |
| Q15057 | ACAP2 | Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 | Homo sapiens (Human) | PR |
| Q5U464 | Asap3 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 | Mus musculus (Mouse) | SS |
| Q7SIG6 | Asap2 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 | Mus musculus (Mouse) | SS |
| Q9QWY8 | Asap1 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 | Mus musculus (Mouse) | SS |
| Q6ZQK5 | Acap2 | Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2 | Mus musculus (Mouse) | PR |
| Q8K2H4 | Acap1 | Arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 1 | Mus musculus (Mouse) | SS |
| Q1AAU6 | Asap1 | Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1 | Rattus norvegicus (Rat) | SS |
| Q9C6C3 | AGD2 | ADP-ribosylation factor GTPase-activating protein AGD2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SMX5 | AGD4 | ADP-ribosylation factor GTPase-activating protein AGD4 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTVKLDFEEC | LKDSPRFRAS | IELVEAEVSE | LETRLEKLLK | LGTGLLESGR | HYLAASRAFV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VGICDLARLG | PPEPMMAECL | EKFTVSLNHK | LDSHAELLDA | TQHTLQQQIQ | TLVKEGLRGF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| REARRDFWRG | AESLEAALTH | NAEVPRRRAQ | EAEEAGAALR | TARAGYRGRA | LDYALQINVI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EDKRKFDIME | FVLRLVEAQA | THFQQGHEEL | SRLSQYRKEL | GAQLHQLVLN | SAREKRDMEQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RHVLLKQKEL | GGEEPEPSLR | EGPGGLVMEG | HLFKRASNAF | KTWSRRWFTI | QSNQLVYQKK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YKDPVTVVVD | DLRLCTVKLC | PDSERRFCFE | VVSTSKSCLL | QADSERLLQL | WVSAVQSSIA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SAFSQARLDD | SPRGPGQGSG | HLAIGSAATL | GSGGMARGRE | PGGVGHVVAQ | VQSVDGNAQC |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CDCREPAPEW | ASINLGVTLC | IQCSGIHRSL | GVHFSKVRSL | TLDSWEPELV | KLMCELGNVI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| INQIYEARVE | AMAVKKPGPS | CSRQEKEAWI | HAKYVEKKFL | TKLPEIRGRR | GGRGRPRGQP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PVPPKPSIRP | RPGSLRSKPE | PPSEDLGSLH | PGALLFRASG | HPPSLPTMAD | ALAHGADVNW |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VNGGQDNATP | LIQATAANSL | LACEFLLQNG | ANVNQADSAG | RGPLHHATIL | GHTGLACLFL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KRGADLGARD | SEGRDPLTIA | METANADIVT | LLRLAKMREA | EAAQGQAGDE | TYLDIFRDFS |
| 730 | |||||
| LMASDDPEKL | SRRSHDLHTL |