Q8WWP7
PR
Gene name |
GIMAP1 (IMAP1) |
Protein name |
GTPase IMAP family member 1 |
Names |
Immunity-associated protein 1, hIMAP1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:170575 |
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
2 structures for Q8WWP7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3V70 | X-ray | 221 A | A/B | 25-253 | PDB |
| AF-Q8WWP7-F1 | Predicted | AlphaFoldDB |
321 variants for Q8WWP7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1217235300 CA369832434 |
2 | G>A | No |
ClinGen gnomAD |
|
|
COSM1699576 CA4564656 rs773050722 |
3 | G>E | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1475412516 CA369832450 |
4 | R>G | No |
ClinGen gnomAD |
|
|
rs746747085 CA4564657 |
4 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1427723833 CA369832499 |
5 | K>E | No |
ClinGen gnomAD |
|
|
rs574837579 CA4564659 |
7 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA169069064 rs989646724 |
7 | A>T | No |
ClinGen Ensembl |
|
|
CA4564658 rs574837579 |
7 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200491299 CA4564661 |
9 | D>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4564662 rs774468773 |
9 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1277046547 CA369832682 |
10 | E>Q | No |
ClinGen TOPMed |
|
|
rs761840223 CA4564663 |
12 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1344658152 CA369832799 |
13 | V>I | No |
ClinGen gnomAD |
|
|
CA369832838 rs1219177189 |
14 | Y>H | No |
ClinGen TOPMed |
|
|
rs757857616 CA4564689 |
16 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs201408566 CA4564690 |
17 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4564692 rs149617630 |
18 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751170712 CA4564691 |
18 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4564693 rs781321493 |
19 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs987918385 CA169069507 |
20 | A>T | No |
ClinGen gnomAD |
|
|
CA4564695 rs769499729 |
20 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs551296159 CA4564697 |
23 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4564696 rs779139111 |
23 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4564698 rs772350694 |
25 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA169069518 rs1043834348 |
25 | E>Q | No |
ClinGen TOPMed |
|
|
rs1383454400 CA369834658 |
25 | E>V | No |
ClinGen gnomAD |
|
|
CA169069522 rs866130773 |
26 | S>T | No |
ClinGen Ensembl |
|
|
rs1162827296 CA369834683 |
26 | S>Y | No |
ClinGen gnomAD |
|
|
CA4564700 rs75609333 |
27 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM746009 rs867001533 CA169069530 |
28 | R>Q | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs777141777 CA4564702 |
28 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1448297942 CA369834749 |
30 | L>F | No |
ClinGen gnomAD |
|
|
CA369834787 rs1379917318 |
31 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4564704 rs765521233 |
32 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1197682990 CA369834838 |
33 | V>L | No |
ClinGen gnomAD |
|
|
CA369834883 rs1341911414 |
35 | R>G | No |
ClinGen gnomAD |
|
|
CA369834887 rs1194377597 |
35 | R>K | No |
ClinGen gnomAD |
|
|
rs1447344724 CA369834900 |
35 | R>S | No |
ClinGen TOPMed |
|
|
rs763886483 CA4564707 |
37 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1449212975 CA369834950 |
38 | A>T | No |
ClinGen TOPMed |
|
|
rs1028389231 CA169069547 |
38 | A>V | No |
ClinGen TOPMed |
|
|
rs562054826 CA369835063 |
41 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756859671 CA4564709 |
41 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs750341190 CA4564711 |
42 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755874999 CA4564712 |
43 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs779713323 CA4564713 |
44 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1395469709 CA369835173 |
46 | S>G | No |
ClinGen gnomAD |
|
|
rs1338244116 CA369835196 |
47 | I>T | No |
ClinGen gnomAD |
|
|
CA369835190 rs1470043159 |
47 | I>V | No |
ClinGen gnomAD |
|
|
CA4564720 rs746356038 |
50 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA4564721 rs770389381 |
51 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA369835359 rs1270019036 |
52 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4564722 rs775693608 |
52 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA369835470 rs1585221361 |
57 | L>R | No |
ClinGen Ensembl |
|
|
CA369835511 rs1205832462 |
58 | G>A | No |
ClinGen gnomAD |
|
|
rs1431266809 CA369835490 |
58 | G>R | No |
ClinGen TOPMed |
|
|
rs867616370 CA169069593 |
59 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4564724 rs200708956 |
60 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774171968 CA4564725 |
61 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA169069601 rs988076574 |
63 | T>P | No |
ClinGen TOPMed |
|
| TCGA novel | 64 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4564726 rs142046758 |
64 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs964759206 CA169069606 |
67 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA369835681 rs1585221397 |
67 | T>P | No |
ClinGen Ensembl |
|
|
CA369835713 rs1448707179 |
68 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA369835825 rs1585221425 |
73 | W>G | No |
ClinGen Ensembl |
|
|
rs151144214 CA4564730 |
73 | W>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA369835865 rs1296891688 |
75 | K>E | No |
ClinGen gnomAD |
|
|
rs1426705290 CA369835877 |
75 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 76 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs527414207 CA169069625 |
76 | C>Y | No |
ClinGen gnomAD |
|
|
CA169069627 rs1029606178 |
77 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs201983958 CA4564732 |
81 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1332073537 CA369835975 |
82 | D>A | No |
ClinGen gnomAD |
|
|
CA369835965 rs1318192766 |
82 | D>N | No |
ClinGen gnomAD |
|
|
CA369835993 rs1281756908 |
83 | T>I | No |
ClinGen gnomAD |
|
|
CA169069640 rs937763624 |
84 | P>A | No |
ClinGen TOPMed |
|
|
rs1323175863 CA369836001 |
84 | P>L | No |
ClinGen gnomAD |
|
|
CA169069644 rs937763624 |
84 | P>S | No |
ClinGen TOPMed |
|
|
CA4564735 rs777912040 |
85 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs573593989 CA369836059 |
88 | S>N | No |
ClinGen 1000Genomes gnomAD |
|
|
rs573593989 CA169069655 |
88 | S>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA4564736 RCV000972253 rs61748272 |
89 | S>P | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 90 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1260869151 CA369836105 |
91 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA369836107 rs1260869151 |
91 | V>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 91 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369836095 rs1363822417 |
91 | V>M | No |
ClinGen TOPMed |
|
|
CA4564738 rs781117780 |
92 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs746008890 TCGA novel CA4564739 |
95 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
CA369836168 rs1563365406 |
96 | P>A | No |
ClinGen Ensembl |
|
|
rs1414087500 CA369836186 |
97 | G>A | No |
ClinGen TOPMed |
|
|
rs1450947762 COSM1548694 CA369836236 |
100 | E>G | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA4564743 rs769156667 |
100 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4564745 rs761556718 |
105 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs371565531 CA4564746 |
107 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs867936529 CA169069680 |
108 | S>L | No |
ClinGen Ensembl |
|
| TCGA novel | 110 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA169069683 rs946514571 |
111 | G>R | No |
ClinGen TOPMed |
|
|
CA4564747 rs772577003 |
112 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA369836445 rs1170710329 |
113 | H>R | No |
ClinGen TOPMed |
|
|
CA169069691 COSM1699577 rs75828764 |
113 | H>Y | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs753825606 CA4564750 |
114 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360163053 CA369836508 |
117 | L>Q | No |
ClinGen gnomAD |
|
|
rs1208825151 CA369836514 |
118 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA369836516 rs1208825151 |
118 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs757448692 CA4564754 |
120 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
COSM1087253 CA369836602 rs1252145044 |
123 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs781514490 CA4564755 |
123 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA169069712 rs374968861 |
126 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4564757 rs374968861 COSM206061 |
126 | A>T | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1448276904 CA369836671 |
127 | Q>H | No |
ClinGen gnomAD |
|
|
rs780369648 CA369836694 |
129 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780369648 CA4564758 |
129 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427159646 CA369836706 |
129 | Q>H | No |
ClinGen gnomAD |
|
|
CA4564759 rs367917043 |
130 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 130 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369836732 rs1365373635 |
131 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1365373635 CA369836729 |
131 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA169069714 rs1018757831 |
132 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 133 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369836773 rs769354848 |
134 | Q>E | No |
ClinGen ExAC TOPMed |
|
|
CA369836787 rs1391038968 |
134 | Q>H | No |
ClinGen gnomAD |
|
|
rs769354848 CA4564760 |
134 | Q>K | No |
ClinGen ExAC TOPMed |
|
|
CA369836782 rs1371529851 |
134 | Q>L | No |
ClinGen gnomAD |
|
|
CA4564761 rs779410561 |
135 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA369836807 rs1248113131 |
136 | R>K | No |
ClinGen gnomAD |
|
|
CA169069716 rs965883099 |
136 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4564762 rs748576215 |
137 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1472691302 CA369836835 |
138 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1320895562 CA369836854 |
139 | F>I | No |
ClinGen gnomAD |
|
|
rs1252849252 CA369836873 |
140 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs772952752 CA4564764 |
141 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA369836908 rs1325630615 |
142 | D>G | No |
ClinGen TOPMed |
|
|
CA369836904 rs1243239661 |
142 | D>N | No |
ClinGen gnomAD |
|
|
rs370798324 CA4564765 |
143 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1420602281 CA369836953 |
147 | M>V | No |
ClinGen TOPMed |
|
|
rs1385090066 CA369836961 |
148 | V>I | No |
ClinGen gnomAD |
|
|
COSM1087254 rs929536980 CA169069727 |
150 | V>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA369836993 rs1461719013 |
153 | R>G | No |
ClinGen gnomAD |
|
|
CA4564771 rs762835376 |
157 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs201086465 CA169069736 |
158 | A>T | No |
ClinGen gnomAD |
|
|
rs146606978 CA169069737 |
158 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs767585670 CA4564772 |
159 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369837041 rs1297516788 |
160 | G>D | No |
ClinGen gnomAD |
|
|
rs1297516788 CA369837040 |
160 | G>V | No |
ClinGen gnomAD |
|
|
CA4564773 rs750672448 |
162 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA369837053 rs756082459 |
163 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs756082459 CA4564774 |
163 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs142477944 CA4564776 |
163 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145115862 CA169069743 |
164 | D>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1241988447 CA369837066 |
165 | Y>D | No |
ClinGen TOPMed gnomAD |
|
| VAR_036301 | 166 | V>E | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA369837075 rs138850461 |
166 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1449195 rs138850461 CA4564777 |
166 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4564778 rs779605802 |
167 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA369837087 rs1468436451 |
168 | N>D | No |
ClinGen Ensembl |
|
| TCGA novel | 170 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1585221778 CA369837101 |
170 | E>Q | No |
ClinGen Ensembl |
|
|
CA369837116 rs1417844598 |
172 | R>G | No |
ClinGen gnomAD |
|
|
CA4564779 rs142041443 |
172 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4564780 rs142041443 |
172 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1417844598 CA369837117 |
172 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA369837119 rs1431648028 |
173 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1468419330 CA369837133 |
175 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4564781 rs368249123 |
175 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1468419330 CA369837132 |
175 | R>S | No |
ClinGen gnomAD |
|
|
rs1345838972 CA369837137 |
176 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA369837147 rs1319033448 |
177 | L>Q | No |
ClinGen TOPMed |
|
|
CA369837150 rs1453633519 |
178 | V>M | No |
ClinGen TOPMed |
|
|
CA369837163 rs1030743802 |
180 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1431420862 CA369837164 |
180 | E>A | No |
ClinGen gnomAD |
|
|
CA369837167 rs1290515203 |
180 | E>D | No |
ClinGen gnomAD |
|
|
rs1030743802 CA169069755 |
180 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs770544026 CA4564783 |
182 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221277042 CA369837187 |
183 | G>D | No |
ClinGen gnomAD |
|
|
CA369837183 rs1325330115 |
183 | G>R | No |
ClinGen gnomAD |
|
|
rs759086093 CA369837191 |
184 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 184 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4564785 rs759086093 |
184 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369837190 rs759086093 |
184 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369837196 rs1585221849 |
185 | V>A | No |
ClinGen Ensembl |
|
|
rs1218598475 CA369837194 |
185 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1218598475 CA369837193 |
185 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA369837199 rs1240798519 |
186 | C>R | No |
ClinGen gnomAD |
|
|
rs563802143 CA4564788 |
191 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4564786 rs372451334 |
191 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143633188 CA169069779 |
192 | A>T | No |
ClinGen ESP TOPMed |
|
|
rs753846343 CA169069780 |
193 | T>I | No |
ClinGen gnomAD |
|
|
rs763955467 CA4564789 |
193 | T>P | No |
ClinGen ExAC |
|
|
CA369837248 rs1463145921 |
194 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1408844890 CA369837257 COSM1731214 |
195 | R>Q | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA4564790 COSM1449196 rs774081218 |
195 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs766760280 CA4564794 |
196 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369837293 rs549321304 |
198 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1372811814 CA369837304 |
199 | A>G | No |
ClinGen TOPMed |
|
|
rs559814177 CA4564797 |
199 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758892280 CA4564799 |
201 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 202 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4564800 rs778181702 |
204 | L>R | No |
ClinGen ExAC gnomAD |
|
|
COSM297811 rs780854861 CA4564803 |
206 | G>E | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA369837383 rs1353705507 |
206 | G>W | Variant assessed as Somatic; 4.778e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs745332223 CA4564804 |
207 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA369837415 rs1198427324 |
209 | E>K | No |
ClinGen gnomAD |
|
|
CA369837433 rs1436780924 |
210 | G>A | No |
ClinGen TOPMed |
|
|
CA4564806 rs775340961 |
210 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749245836 CA369837439 |
211 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs774176893 CA4564809 |
213 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs761557918 CA4564810 |
214 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190701188 CA369837489 |
215 | H>R | No |
ClinGen TOPMed |
|
|
CA4564811 rs528731909 |
217 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201088881 CA4564813 |
218 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1208174 CA369837520 rs201088881 |
218 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA369837566 rs1188221020 |
221 | S>Y | No |
ClinGen TOPMed |
|
|
CA369837579 rs1375454253 |
222 | N>S | No |
ClinGen gnomAD |
|
|
CA4564816 rs758913531 |
223 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4564817 rs764547663 |
224 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA369837620 rs1409967118 |
225 | Y>* | No |
ClinGen gnomAD |
|
|
rs1274140194 CA369837650 |
228 | A>S | No |
ClinGen gnomAD |
|
|
CA369837653 rs1439814461 |
228 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4564819 rs757641224 |
229 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA169069910 rs368118770 |
229 | Q>H | No |
ClinGen ESP gnomAD |
|
|
CA369837661 rs1211039775 |
229 | Q>L | No |
ClinGen TOPMed |
|
|
rs548440867 CA4564820 |
230 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162505300 CA369837683 |
231 | L>P | No |
ClinGen gnomAD |
|
|
CA4564822 rs745525840 |
231 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA369837688 rs1419928825 |
232 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs755832246 CA4564823 |
232 | R>H | No |
ClinGen ExAC TOPMed |
|
|
CA369837702 rs1326399257 |
233 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA4564824 rs779527670 |
233 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1394793024 CA369837710 |
234 | A>P | No |
ClinGen TOPMed |
|
|
CA369837720 rs1398924670 |
235 | G>R | No |
ClinGen gnomAD |
|
|
rs749901221 CA4564821 |
237 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4564825 rs748800345 |
237 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA369837773 rs1381304423 COSM1087256 |
239 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs537240577 CA4564829 COSM452609 |
241 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs774189459 CA4564828 |
241 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs748312037 CA169069991 |
242 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4564831 COSM3781288 rs748312037 |
242 | R>Q | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 242 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1014088697 CA369837810 |
243 | V>A | No |
ClinGen gnomAD |
|
|
CA169069999 rs1014088697 |
243 | V>G | No |
ClinGen gnomAD |
|
|
CA4564832 rs759815094 |
243 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1241351856 CA369837822 |
244 | A>V | No |
ClinGen gnomAD |
|
|
rs1186690036 CA369837843 |
246 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1186690036 CA369837842 |
246 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1373463897 CA369837845 |
246 | R>H | Variant assessed as Somatic; 6.588e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA369837854 rs1476231665 |
247 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1476231665 CA369837850 |
247 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1422545935 CA369837866 |
248 | A>E | No |
ClinGen gnomAD |
|
|
CA4564834 rs775605210 |
249 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA369837898 rs1046572739 |
251 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA169070010 rs1046572739 |
251 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA369837894 rs1178011618 |
251 | V>L | No |
ClinGen gnomAD |
|
|
rs1178011618 CA369837892 |
251 | V>M | No |
ClinGen gnomAD |
|
|
rs762973003 CA4564835 |
253 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4564837 rs7811263 VAR_049530 |
254 | R>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 254 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1187995294 CA369837951 |
256 | W>R | No |
ClinGen TOPMed |
|
|
CA4564839 rs567307381 |
258 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA369837973 rs567307381 |
258 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA369837990 rs1225549075 |
259 | W>* | No |
ClinGen gnomAD |
|
|
CA4564840 COSM123360 rs750845429 |
261 | S>L | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs750845429 CA369838012 |
261 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA369838018 rs1344348046 COSM673714 |
262 | A>S | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA369838023 rs1199808162 |
262 | A>V | No |
ClinGen gnomAD |
|
|
CA369838025 rs375206213 |
263 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369838029 rs1448647168 |
263 | R>P | No |
ClinGen gnomAD |
|
|
CA369838028 rs1448647168 |
263 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4564841 rs375206213 |
263 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1191316133 CA369838032 |
264 | L>M | No |
ClinGen gnomAD |
|
|
rs779614754 CA369838070 |
266 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1201078916 CA369838082 |
267 | W>* | No |
ClinGen gnomAD |
|
|
rs1480585872 CA369838073 |
267 | W>R | No |
ClinGen gnomAD |
|
| TCGA novel | 269 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1334716607 CA369838116 |
270 | S>A | No |
ClinGen TOPMed |
|
|
rs754473167 CA4564844 |
270 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159671260 CA369838130 |
271 | P>R | No |
ClinGen gnomAD |
|
|
CA169070042 rs1001207553 |
272 | R>G | No |
ClinGen TOPMed |
|
|
CA4564846 rs369685775 |
273 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1326554522 CA369838152 |
273 | S>T | No |
ClinGen gnomAD |
|
|
CA369838172 rs1585222179 |
274 | W>C | No |
ClinGen Ensembl |
|
|
CA369838159 rs1392178088 |
274 | W>R | No |
ClinGen TOPMed |
|
|
rs747298156 CA169070055 |
276 | L>Q | No |
ClinGen Ensembl |
|
|
rs1346519708 CA369838195 |
277 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA369838194 rs1346519708 |
277 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA369838202 rs1459707047 |
278 | L>M | No |
ClinGen TOPMed |
|
|
rs1407027051 CA369838206 |
278 | L>P | No |
ClinGen gnomAD |
|
|
rs1585222205 CA369838218 |
279 | A>G | No |
ClinGen Ensembl |
|
|
CA169070060 rs868391929 |
283 | G>R | No |
ClinGen Ensembl |
|
| rs756722011 | 284 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4564850 rs772479455 |
284 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777686391 CA4564849 |
284 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369838267 rs772479455 |
284 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763031437 CA4564853 |
285 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs756722011 | 285 | A>R | Variant assessed as Somatic; 6.119e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763031437 CA4564854 |
285 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4564855 rs774558095 |
285 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762295446 CA4564856 |
286 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA169070099 rs961144913 |
286 | L>P | No |
ClinGen TOPMed |
|
|
CA169070104 rs778153470 |
287 | L>P | No |
ClinGen gnomAD |
|
|
CA369838340 rs1438441799 |
290 | V>M | No |
ClinGen gnomAD |
|
|
rs1216083024 CA369838397 |
295 | R>G | No |
ClinGen TOPMed |
|
|
rs1585222280 CA369838412 |
296 | W>G | No |
ClinGen Ensembl |
|
|
rs1585222282 CA369838429 |
297 | S>A | No |
ClinGen Ensembl |
|
|
rs754447995 CA4564862 |
297 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1585222289 CA369838456 |
298 | E>G | No |
ClinGen Ensembl |
|
|
CA369838438 rs1309300758 |
298 | E>K | No |
ClinGen gnomAD |
|
|
CA369838477 rs1585222305 |
299 | A>G | No |
ClinGen Ensembl |
|
|
rs1237905214 CA369838469 |
299 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs111896766 CA169070145 |
300 | V>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA369838488 rs752300708 |
300 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4564864 rs752300708 COSM1449198 |
300 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs758377153 CA4564865 |
301 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1033923127 CA169070155 |
302 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA169070148 rs1000745605 |
302 | E>K | No |
ClinGen Ensembl |
|
|
CA369838555 rs1585222332 |
303 | V>G | No |
ClinGen Ensembl |
|
|
rs746750822 CA4564867 |
304 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA169070186 rs911509194 |
305 | P>A | No |
ClinGen TOPMed |
|
|
CA369838595 rs1382756680 |
306 | D>Y | No |
ClinGen TOPMed |
|
|
CA369838627 rs1178581370 |
307 | D>G | No |
ClinGen gnomAD |
No associated diseases with Q8WWP7
1 regional properties for Q8WWP7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | AIG1-type guanine nucleotide-binding (G) domain | 25 - 230 | IPR006703 |
Functions
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| 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 |
|---|---|
| GTP binding | Binding to GTP, guanosine triphosphate. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6P9H5 | GIMAP6 | GTPase IMAP family member 6 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGGRKMATDE | ENVYGLEENA | QSRQESTRRL | ILVGRTGAGK | SATGNSILGQ | RRFFSRLGAT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SVTRACTTGS | RRWDKCHVEV | VDTPDIFSSQ | VSKTDPGCEE | RGHCYLLSAP | GPHALLLVTQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LGRFTAQDQQ | AVRQVRDMFG | EDVLKWMVIV | FTRKEDLAGG | SLHDYVSNTE | NRALRELVAE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CGGRVCAFDN | RATGREQEAQ | VEQLLGMVEG | LVLEHKGAHY | SNEVYELAQV | LRWAGPEERL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RRVAERVAAR | VQRRPWGAWL | SARLWKWLKS | PRSWRLGLAL | LLGGALLFWV | LLHRRWSEAV |
| AEVGPD |