O95872
PR
Gene name |
GPANK1 (ANKRD59, BAT4, G5, GPATCH10) |
Protein name |
G patch domain and ankyrin repeat-containing protein 1 |
Names |
Ankyrin repeat domain-containing protein 59, G patch domain-containing protein 10, HLA-B-associated transcript 4, Protein G5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7918 |
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 O95872
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O95872-F1 | Predicted | AlphaFoldDB |
316 variants for O95872
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA3718464 rs781394964 |
2 | S>F | No |
ExAC gnomAD ClinGen |
|
|
CA3718465 rs746014080 |
2 | S>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs140434336 CA3718462 |
3 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757605253 CA3718463 |
3 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1234137137 CA363466476 |
4 | P>R | No |
gnomAD ClinGen |
|
|
rs553312716 CA3718461 |
4 | P>S | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA3718460 rs758625466 |
5 | L>F | No |
ExAC gnomAD ClinGen |
|
|
rs1299210775 CA363466433 |
6 | L>I | No |
gnomAD ClinGen |
|
|
CA3718459 rs753262799 |
8 | T>P | No |
ExAC gnomAD ClinGen |
|
|
CA363466347 rs1361366081 |
9 | F>S | No |
ClinGen gnomAD |
|
|
rs954185290 CA136880936 |
10 | T>I | No |
Ensembl ClinGen |
|
|
rs760003767 CA3718457 |
10 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA3718455 rs765826829 |
13 | T>P | No |
ExAC gnomAD ClinGen |
|
|
CA136880935 rs774998575 |
16 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs1488503120 CA363466169 |
16 | S>R | No |
gnomAD ClinGen |
|
|
rs1402461127 CA363466131 |
18 | L>V | No |
TOPMed ClinGen |
|
|
CA363466019 rs1445059525 |
21 | D>G | No |
gnomAD ClinGen |
|
|
rs1554167883 CA363465905 |
23 | Q>R | No |
Ensembl ClinGen |
|
|
rs761568409 CA363465848 |
24 | Q>H | No |
ExAC gnomAD ClinGen |
|
|
CA363465800 rs1346976205 |
26 | P>T | No |
gnomAD ClinGen |
|
|
rs1261374567 CA363465763 |
27 | Q>* | No |
gnomAD ClinGen |
|
|
CA3718448 rs768756360 |
29 | E>K | No |
ExAC gnomAD ClinGen |
|
|
CA3718447 rs749218743 |
31 | P>A | No |
ExAC gnomAD ClinGen |
|
|
rs781448265 CA3718446 |
31 | P>L | No |
ExAC TOPMed ClinGen |
|
|
CA363465586 rs771094951 |
33 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs771094951 CA3718445 |
33 | S>Y | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 38 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200769933 CA3718444 |
41 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
VAR_048291 rs3130618 CA3718443 |
41 | R>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs3130618 CA363465465 |
41 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
| rs3130618 | 41 | R>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3719582 CA3718441 rs753041542 |
44 | Y>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA363465215 rs1562033512 |
48 | I>F | No |
Ensembl ClinGen |
|
|
rs77926805 CA3718439 |
48 | I>T | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs756358386 CA136880933 |
49 | G>V | No |
Ensembl ClinGen |
|
|
CA136880932 rs1043134390 |
50 | D>N | No |
gnomAD ClinGen |
|
|
rs1236788734 CA363465056 |
51 | E>G | No |
TOPMed ClinGen |
|
|
CA363465027 rs1241326916 |
52 | S>N | No |
gnomAD ClinGen |
|
|
CA363464991 rs148612650 |
53 | S>R | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs760042240 CA3718436 |
55 | P>L | No |
ExAC gnomAD ClinGen |
|
|
CA3718437 rs765874632 |
55 | P>S | No |
ClinGen ExAC |
|
|
CA3718435 rs35499542 |
56 | D>E | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363464709 rs1260002786 |
61 | Q>* | No |
gnomAD ClinGen |
|
|
CA363464668 rs767144511 |
61 | Q>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1404645759 CA363464690 |
61 | Q>P | No |
gnomAD ClinGen |
|
|
CA3718433 rs761498542 |
62 | T>A | No |
ExAC gnomAD ClinGen |
|
|
rs895009768 CA136880931 |
62 | T>N | No |
gnomAD ClinGen |
|
|
rs895009768 CA363464645 |
62 | T>S | No |
gnomAD ClinGen |
|
|
CA3718431 rs371691461 |
64 | P>A | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3718432 rs371691461 |
64 | P>S | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs775503625 CA3718429 |
66 | R>G | No |
ExAC gnomAD ClinGen |
|
|
CA363464400 rs149909172 |
66 | R>S | No |
ESP gnomAD ClinGen |
|
|
rs771150071 CA3718428 |
66 | R>T | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363464332 rs1407889604 |
68 | R>K | No |
ClinGen gnomAD |
|
|
CA363464275 rs1361647647 |
69 | K>E | No |
gnomAD ClinGen |
|
| TCGA novel | 69 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3718425 rs367920721 |
74 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed ClinGen NCI-TCGA |
|
CA3718424 rs367920721 |
74 | R>T | No |
ESP ExAC TOPMed ClinGen |
|
|
rs1383379576 CA363463799 |
75 | I>M | No |
gnomAD ClinGen |
|
|
rs772230446 CA3718423 |
75 | I>R | No |
ExAC ClinGen |
|
|
CA3718420 rs779280656 |
76 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3718421 rs139853921 |
76 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA136880928 rs139853921 |
76 | M>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1041439983 CA136880929 |
76 | M>V | No |
TOPMed ClinGen |
|
|
CA363463721 rs1240129417 |
77 | K>R | No |
gnomAD ClinGen |
|
|
CA3718419 rs755264691 |
79 | P>S | No |
ExAC gnomAD ClinGen |
|
|
rs755264691 CA363463648 |
79 | P>T | No |
ExAC gnomAD ClinGen |
|
|
CA363463624 rs1437508240 |
80 | A>T | No |
TOPMed gnomAD ClinGen |
|
|
rs1362677087 CA363463515 |
81 | A>V | No |
TOPMed gnomAD ClinGen |
|
|
CA3718418 rs754351775 |
82 | E>Q | No |
ExAC gnomAD ClinGen |
|
|
rs1230447115 CA363463410 |
83 | A>T | No |
gnomAD ClinGen |
|
| TCGA novel | 84 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363463330 rs1176109041 |
85 | A>T | No |
ClinGen gnomAD |
|
|
rs1426703494 CA363463299 |
86 | E>A | No |
gnomAD ClinGen |
|
|
rs1241529312 CA363463262 |
87 | G>E | No |
gnomAD ClinGen |
|
|
CA3718416 rs756637255 |
87 | G>R | No |
ExAC gnomAD ClinGen |
|
| TCGA novel | 88 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3718415 rs372861884 |
93 | G>A | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1299424236 CA363463114 |
93 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1323805774 CA363462907 |
96 | R>K | No |
gnomAD ClinGen |
|
|
rs909640102 CA136880925 |
97 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs909640102 CA136880926 |
97 | S>Y | No |
TOPMed gnomAD ClinGen |
|
|
CA3718413 rs767035339 |
98 | L>F | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 101 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1440276724 CA363462624 |
101 | E>K | No |
gnomAD ClinGen |
|
|
CA363462554 rs1337872171 |
102 | D>N | No |
TOPMed ClinGen |
|
|
rs756886388 CA3718412 |
103 | K>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363462432 rs1583581103 |
103 | K>N | No |
Ensembl ClinGen |
|
|
rs1469682073 CA363462251 |
106 | H>R | No |
gnomAD ClinGen |
|
|
rs570826260 CA363462210 |
107 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs763986309 CA136880924 |
107 | R>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3718410 rs763986309 |
107 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs953786329 CA136880923 |
109 | L>V | No |
Ensembl ClinGen |
|
|
rs762780265 CA3718409 |
110 | R>S | No |
ExAC TOPMed ClinGen |
|
| TCGA novel | 111 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs35265780 VAR_048292 CA3718407 |
112 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA363461839 rs1460294107 |
113 | Q>H | No |
ClinGen TOPMed |
|
|
rs765304568 CA3718406 |
113 | Q>R | No |
ExAC gnomAD ClinGen |
|
|
rs1356527761 CA363461816 |
114 | E>K | No |
ClinGen gnomAD |
|
|
CA363461579 rs1371989476 |
118 | P>R | No |
ClinGen gnomAD |
|
|
rs1406415898 CA363461519 |
120 | L>F | No |
gnomAD ClinGen |
|
|
rs369913610 CA3718403 |
121 | R>K | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs1363288159 CA363461477 |
121 | R>W | No |
TOPMed gnomAD ClinGen |
|
|
CA363461412 rs1562031362 |
122 | R>I | No |
Ensembl ClinGen |
|
|
CA363461330 rs1452658972 |
123 | L>R | No |
ClinGen TOPMed |
|
|
CA136880921 rs774494386 |
126 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3718400 rs774494386 |
126 | P>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA136880922 rs966017946 |
126 | P>S | No |
Ensembl ClinGen |
|
| TCGA novel | 128 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1031890548 CA136880920 |
131 | G>E | No |
TOPMed ClinGen |
|
|
rs147455885 CA3718398 |
132 | A>T | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363460769 rs1210832999 |
132 | A>V | No |
gnomAD ClinGen |
|
|
rs780368460 CA3718397 |
133 | G>E | No |
ExAC TOPMed ClinGen |
|
|
CA136880919 rs1029492553 |
133 | G>R | No |
TOPMed gnomAD ClinGen |
|
|
CA363460767 rs1029492553 |
133 | G>W | No |
TOPMed gnomAD ClinGen |
|
|
CA3718396 rs756631562 |
134 | G>V | No |
ExAC gnomAD ClinGen |
|
|
rs780602605 CA3718394 |
135 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs756719678 CA3718393 |
137 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA136880918 rs904499643 |
137 | N>K | No |
gnomAD ClinGen |
|
|
CA363460502 rs1224786045 |
138 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs369750078 CA363460453 |
139 | R>L | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3718391 rs369750078 |
139 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA136880917 rs369750078 |
139 | R>Q | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3718392 rs751270777 |
139 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1428105717 CA363460441 |
140 | D>Y | No |
TOPMed ClinGen |
|
|
rs1363827130 CA363460357 |
141 | A>G | No |
gnomAD ClinGen |
|
|
rs758120404 CA3718390 |
143 | W>* | No |
ExAC gnomAD ClinGen |
|
|
CA3718389 rs752587042 |
146 | P>L | No |
ExAC gnomAD ClinGen |
|
|
COSM1245989 rs963936659 CA136880916 |
146 | P>S | oesophagus [Cosmic] | No |
TOPMed ClinGen cosmic curated |
|
CA3718387 rs374773181 |
148 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3718388 rs765032346 |
148 | M>L | No |
ExAC gnomAD ClinGen |
|
|
CA363459993 rs1468285765 |
149 | C>S | No |
gnomAD ClinGen |
|
|
rs776565528 CA3718386 |
150 | A>P | No |
ExAC gnomAD ClinGen |
|
|
rs776565528 CA363459968 |
150 | A>T | No |
ExAC gnomAD ClinGen |
|
|
rs767504115 CA3718385 |
152 | R>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363459890 rs761935261 |
152 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363459895 rs761935261 |
152 | R>P | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3718384 rs761935261 |
152 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363459840 rs749493265 |
153 | A>E | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3718381 rs749493265 |
153 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3718383 rs774406838 |
153 | A>T | No |
ExAC gnomAD ClinGen |
|
|
rs749493265 CA3718382 |
153 | A>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3718380 rs200856913 |
155 | Q>R | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs1261897966 CA363459659 |
158 | A>P | No |
gnomAD ClinGen |
|
|
CA363459574 rs1218882731 |
160 | S>N | No |
ClinGen gnomAD |
|
|
rs770158536 CA3718379 |
161 | Y>H | No |
ExAC gnomAD ClinGen |
|
|
rs1381416523 CA363459474 |
163 | L>V | No |
gnomAD ClinGen |
|
|
COSM741899 CA3718376 rs570286986 |
165 | R>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ExAC gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA136880915 rs373517308 |
165 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs373517308 CA3718375 |
165 | R>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3718374 rs777388592 |
166 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA363459314 rs1332067861 |
168 | A>T | No |
gnomAD ClinGen |
|
|
rs758144778 CA3718373 |
168 | A>V | No |
ExAC gnomAD ClinGen |
|
|
CA3718371 rs778575734 |
169 | W>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs754739934 CA136880914 |
170 | V>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs754739934 CA3718370 |
170 | V>M | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 172 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363458888 rs1324844849 |
177 | G>S | No |
TOPMed ClinGen |
|
|
CA363458794 rs1182297015 |
178 | R>S | No |
gnomAD ClinGen |
|
|
CA3718368 rs201945052 |
179 | D>G | No |
ExAC gnomAD ClinGen |
|
|
rs1242017918 CA363458689 |
180 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA363458588 rs1562029768 |
182 | Q>* | No |
Ensembl ClinGen |
|
| TCGA novel | 183 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363458391 rs1481437671 |
186 | E>K | No |
ClinGen gnomAD |
|
|
rs1249246911 CA363458353 |
187 | A>S | No |
gnomAD ClinGen |
|
|
CA3718366 rs751690507 |
189 | F>C | No |
ExAC ClinGen |
|
|
CA3718365 rs201559371 |
190 | P>S | No |
1000Genomes ExAC gnomAD ClinGen |
|
|
rs763197007 CA3718364 |
191 | E>K | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363458174 rs371192794 |
192 | V>I | No |
ESP ExAC gnomAD ClinGen |
|
|
CA3718363 rs371192794 |
192 | V>L | No |
ESP ExAC gnomAD ClinGen |
|
|
rs1175249864 CA363458021 |
193 | A>V | No |
gnomAD ClinGen |
|
|
rs770072000 CA363458004 |
194 | R>C | No |
ExAC gnomAD ClinGen |
|
|
CA3718362 rs770072000 |
194 | R>G | No |
ExAC gnomAD ClinGen |
|
|
CA3718361 rs760008053 |
194 | R>H | No |
ExAC gnomAD ClinGen |
|
|
CA3718360 rs776858101 |
196 | V>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363457804 rs1264057508 |
197 | R>S | No |
TOPMed ClinGen |
|
|
CA3718359 rs771608168 |
200 | H>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3718357 rs777453375 |
202 | E>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1480710882 CA363457584 |
202 | E>V | No |
TOPMed ClinGen |
|
|
CA136880913 rs1014004586 |
204 | R>G | No |
TOPMed gnomAD ClinGen |
|
| TCGA novel | 204 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1162010904 CA363457385 |
205 | S>N | No |
gnomAD ClinGen |
|
|
rs1342921073 CA363457347 |
205 | S>R | No |
TOPMed ClinGen |
|
|
rs369234510 CA3718356 |
206 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1381446466 CA363457231 |
208 | N>D | No |
gnomAD ClinGen |
|
|
rs1403519798 CA363457142 |
209 | R>Q | No |
TOPMed ClinGen |
|
|
CA363457168 rs939911930 |
209 | R>W | No |
TOPMed gnomAD ClinGen |
|
|
rs34082689 CA136880804 VAR_048293 |
210 | S>A | No |
Ensembl ClinGen UniProt dbSNP |
|
|
CA136880803 rs940661028 |
211 | P>S | No |
Ensembl ClinGen |
|
|
rs1414986599 CA363455073 |
213 | P>L | No |
TOPMed ClinGen |
|
|
rs771379247 CA3718339 |
215 | L>V | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs761264567 CA3718338 |
217 | Y>* | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363454930 rs1320633641 |
217 | Y>N | No |
gnomAD ClinGen |
|
|
rs371330139 CA3718337 |
219 | E>K | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA3718336 rs772693704 |
220 | N>Y | No |
ExAC gnomAD ClinGen |
|
|
rs1173824885 CA363454503 |
224 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3718335 rs747760527 |
226 | Q>R | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3718333 rs768401621 |
228 | S>C | No |
ExAC gnomAD ClinGen |
|
|
rs79562617 CA136880800 |
228 | S>P | No |
Ensembl ClinGen |
|
|
CA363454306 rs768401621 |
228 | S>Y | No |
ExAC gnomAD ClinGen |
|
|
rs748845479 CA3718332 |
229 | N>D | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1204459796 CA363454283 |
229 | N>S | No |
gnomAD ClinGen |
|
|
CA136880799 rs951594766 |
230 | H>Y | No |
TOPMed ClinGen |
|
|
CA3718331 rs779931712 |
231 | R>C | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1261272958 CA363454151 |
231 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs755840711 CA3718330 |
232 | T>I | No |
ExAC gnomAD ClinGen |
|
|
rs1583570854 CA363454072 |
233 | S>F | No |
Ensembl ClinGen |
|
|
rs1025815540 CA136880798 |
234 | T>A | No |
TOPMed ClinGen |
|
|
rs1025815540 CA363454069 |
234 | T>S | No |
TOPMed ClinGen |
|
|
VAR_020096 rs2295666 CA3718327 |
235 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP |
|
| TCGA novel | 236 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3718326 rs149170313 |
241 | S>L | No |
1000Genomes ESP ExAC gnomAD ClinGen |
|
|
CA363453769 rs1484463268 |
244 | P>S | No |
TOPMed ClinGen |
|
|
CA3718325 rs757185718 |
248 | N>S | No |
ExAC gnomAD ClinGen |
|
|
CA3718323 rs765211928 |
249 | L>F | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363453562 rs1423608036 |
251 | L>P | No |
TOPMed ClinGen |
|
|
rs904542033 CA136880796 |
254 | P>R | No |
TOPMed ClinGen |
|
|
CA363453439 rs1454988512 |
255 | I>V | No |
gnomAD ClinGen |
|
|
rs963936179 CA136880795 |
256 | S>P | No |
gnomAD ClinGen |
|
|
rs768856701 CA3718321 |
258 | P>L | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA136880794 rs1043507095 |
261 | K>E | No |
TOPMed ClinGen |
|
|
rs536451286 CA363453066 |
265 | R>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA363453070 rs536451286 |
265 | R>M | No |
1000Genomes TOPMed gnomAD ClinGen |
|
|
CA3718315 CA3718316 rs768178067 |
265 | R>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs536451286 CA3718317 |
265 | R>T | No |
1000Genomes TOPMed gnomAD ClinGen |
|
|
CA3718313 rs28732158 CA3718312 |
266 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3718314 rs28732158 |
266 | G>W | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 267 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3718310 rs367604820 |
267 | G>C | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363452991 rs1372220961 |
267 | G>D | No |
ClinGen gnomAD |
|
|
CA3718311 rs367604820 |
267 | G>R | No |
1000Genomes ESP ExAC TOPMed gnomAD ClinGen |
|
|
rs367604820 CA3718309 |
267 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs765697080 | 268 | W>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 269 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1011363152 CA136880793 |
269 | E>G | No |
TOPMed gnomAD ClinGen |
|
|
CA363452816 rs1203079644 |
271 | G>E | No |
gnomAD ClinGen |
|
|
CA3718306 rs780938621 |
271 | G>R | No |
ExAC gnomAD ClinGen |
|
|
CA363452721 rs1438658226 |
274 | L>P | No |
gnomAD ClinGen |
|
|
CA3718305 rs757270580 |
276 | P>R | No |
ExAC gnomAD ClinGen |
|
|
CA363452656 rs1275365373 |
276 | P>S | No |
gnomAD ClinGen |
|
|
CA363452610 rs746875032 |
277 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1248835838 CA363452585 |
277 | R>L | No |
TOPMed gnomAD ClinGen |
|
|
rs1248835838 CA363452591 |
277 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3718304 COSM185429 rs746875032 |
277 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA |
|
CA363452511 rs1381181010 |
278 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
|
rs754952446 CA3718302 |
279 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3718301 rs549353194 |
281 | R>C | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA3718300 rs766774365 |
281 | R>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1407796847 CA363452389 |
282 | A>V | No |
gnomAD ClinGen |
|
|
rs756372998 CA3718299 |
283 | N>S | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3718298 rs750865482 |
284 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1163938249 CA363452317 |
284 | P>S | No |
gnomAD ClinGen |
|
|
CA363452287 rs1418082032 |
285 | I>N | No |
TOPMed ClinGen |
|
|
CA363452278 rs1383280041 |
286 | P>T | No |
ClinGen gnomAD |
|
|
CA363452240 rs1242489464 |
287 | T>A | No |
TOPMed gnomAD ClinGen |
|
|
CA363452196 rs1183130783 |
287 | T>I | No |
gnomAD ClinGen |
|
|
CA363452115 rs1359681055 |
289 | L>V | No |
TOPMed ClinGen |
|
|
rs983565994 CA136880789 |
292 | D>Y | No |
TOPMed gnomAD ClinGen |
|
|
CA3718295 rs762415681 |
294 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA363451784 rs1583569045 |
295 | G>E | No |
Ensembl ClinGen |
|
|
CA3718294 rs567379061 |
299 | R>T | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 300 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3718293 rs140394727 |
300 | S>P | No |
ESP ExAC TOPMed gnomAD ClinGen |
|
|
CA363451518 rs1291680147 |
302 | P>S | No |
gnomAD ClinGen |
|
|
rs745501286 CA3718289 |
303 | Q>H | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA3718290 rs769480123 |
303 | Q>R | No |
ExAC ClinGen |
|
|
rs776434585 CA3718288 |
304 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3718287 rs548755060 |
305 | R>* | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA3718286 rs746976728 |
305 | R>Q | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs772038595 CA3718284 |
307 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA363451279 rs1199741099 |
309 | F>L | No |
TOPMed ClinGen |
|
| TCGA novel | 313 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_064698 | 314 | T>N | found in a clear cell renal carcinoma case; somatic mutation [UniProt] | No | UniProt |
|
rs548153346 CA3718281 |
315 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA363450945 rs548153346 |
315 | R>G | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs750632291 CA3718280 |
315 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
CA363450781 rs1269846777 |
319 | G>V | No |
gnomAD ClinGen |
|
|
rs757507162 CA3718278 |
320 | R>G | No |
ExAC gnomAD ClinGen |
|
|
rs964196217 CA136880788 |
320 | R>K | No |
TOPMed ClinGen |
|
|
rs964196217 CA363450732 |
320 | R>T | No |
TOPMed ClinGen |
|
|
CA3718276 rs764576191 |
321 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs372390244 CA3718277 |
321 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763490233 CA3718275 |
322 | R>G | No |
ExAC gnomAD ClinGen |
|
|
CA3718274 rs752257447 |
322 | R>I | No |
ExAC gnomAD ClinGen |
|
|
rs764682175 CA3718273 |
323 | P>A | No |
ExAC gnomAD ClinGen |
|
|
CA363450524 rs1221551349 |
323 | P>L | No |
ClinGen gnomAD |
|
|
rs759220840 CA3718272 |
324 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 324 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363450500 rs776206467 |
325 | R>G | No |
ExAC TOPMed gnomAD ClinGen |
|
|
CA363450485 rs565313993 |
325 | R>P | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA3718270 rs565313993 |
325 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
CA3718271 rs776206467 |
325 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs1377137300 CA363450430 |
326 | V>A | No |
TOPMed ClinGen |
|
| TCGA novel | 327 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1343428234 CA363450384 |
328 | T>A | No |
TOPMed gnomAD ClinGen |
|
|
CA363450385 rs1343428234 |
328 | T>P | No |
TOPMed gnomAD ClinGen |
|
|
rs773028545 CA3718268 |
329 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD ClinGen NCI-TCGA |
|
rs771950604 CA3718267 |
330 | S>N | No |
ExAC TOPMed gnomAD ClinGen |
|
|
rs1346865796 CA363450228 |
330 | S>R | No |
gnomAD ClinGen |
|
|
CA363450166 rs1157080005 |
331 | W>* | No |
gnomAD ClinGen |
|
|
rs1019999405 CA136880787 |
333 | E>* | No |
Ensembl ClinGen |
|
|
rs1011208923 CA136880786 |
333 | E>V | No |
Ensembl ClinGen |
|
|
CA3718265 rs117221826 |
336 | R>G | No |
1000Genomes ExAC TOPMed gnomAD ClinGen |
|
|
rs769930704 CA3718264 |
336 | R>K | No |
ExAC gnomAD ClinGen |
|
|
rs746108373 CA3718263 |
336 | R>S | No |
ExAC gnomAD ClinGen |
|
|
CA136880784 rs372214175 |
337 | R>K | No |
ESP ClinGen |
|
|
rs1240733013 CA363449840 |
338 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
gnomAD ClinGen NCI-TCGA |
| TCGA novel | 338 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 339 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA136880783 rs574301361 |
343 | A>V | No |
Ensembl ClinGen |
|
|
CA3718260 rs757497428 |
346 | R>W | No |
ExAC TOPMed gnomAD ClinGen |
|
| TCGA novel | 349 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3718257 rs771573236 |
351 | Y>* | No |
ExAC TOPMed ClinGen |
|
|
rs758929154 CA3718256 |
352 | M>T | No |
ExAC gnomAD ClinGen |
|
|
CA363448956 rs1320848374 |
353 | N>T | No |
gnomAD ClinGen |
|
|
CA136880782 rs747835412 |
355 | E>K | No |
gnomAD ClinGen |
No associated diseases with O95872
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| nucleic acid binding | Binding to a nucleic acid. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSRPLLITFT | PATDPSDLWK | DGQQQPQPEK | PESTLDGAAA | RAFYEALIGD | ESSAPDSQRS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QTEPARERKR | KKRRIMKAPA | AEAVAEGASG | RHGQGRSLEA | EDKMTHRILR | AAQEGDLPEL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RRLLEPHEAG | GAGGNINARD | AFWWTPLMCA | ARAGQGAAVS | YLLGRGAAWV | GVCELSGRDA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AQLAEEAGFP | EVARMVRESH | GETRSPENRS | PTPSLQYCEN | CDTHFQDSNH | RTSTAHLLSL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SQGPQPPNLP | LGVPISSPGF | KLLLRGGWEP | GMGLGPRGEG | RANPIPTVLK | RDQEGLGYRS |
| 310 | 320 | 330 | 340 | 350 | |
| APQPRVTHFP | AWDTRAVAGR | ERPPRVATLS | WREERRREEK | DRAWERDLRT | YMNLEF |