A6NDS4
PR
Gene name |
TBC1D3B (TBC1D3I) |
Protein name |
TBC1 domain family member 3B |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:414059 |
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 A6NDS4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-A6NDS4-F1 | Predicted | AlphaFoldDB |
436 variants for A6NDS4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA399237952 rs1486962450 |
3 | V>M | No |
ClinGen TOPMed |
|
|
rs1172903865 CA399237944 |
4 | V>I | No |
ClinGen TOPMed |
|
|
rs1172903865 CA399237946 CA399237945 |
4 | V>L | No |
ClinGen TOPMed |
|
|
CA399237930 rs1166830433 |
6 | V>F | No |
ClinGen TOPMed |
|
|
CA399237932 rs1166830433 |
6 | V>L | No |
ClinGen TOPMed |
|
|
rs1415381547 CA399237923 |
7 | A>G | No |
ClinGen TOPMed |
|
|
rs1415381547 CA399237921 |
7 | A>V | No |
ClinGen TOPMed |
|
|
CA399237896 rs1295963466 |
11 | W>R | No |
ClinGen TOPMed |
|
|
CA399237866 rs1325519858 |
15 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 15 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399237864 rs1225687818 |
15 | R>Q | No |
ClinGen TOPMed |
|
|
rs1212311856 CA399237850 |
17 | D>G | No |
ClinGen TOPMed |
|
|
rs1347955880 CA399237851 |
17 | D>H | No |
ClinGen TOPMed |
|
|
rs1347955880 CA399237852 |
17 | D>N | No |
ClinGen TOPMed |
|
|
CA399237837 rs1482530680 |
19 | I>V | No |
ClinGen TOPMed |
|
|
CA399237813 rs1188682855 |
22 | Y>H | No |
ClinGen TOPMed |
|
|
rs1186890978 CA399237800 |
23 | E>D | No |
ClinGen TOPMed |
|
|
rs1428185941 CA399237805 |
23 | E>K | No |
ClinGen TOPMed |
|
|
CA399237791 rs1435418067 |
24 | K>N | No |
ClinGen TOPMed |
|
|
rs1423111376 CA399237762 |
27 | R>* | No |
ClinGen TOPMed |
|
| TCGA novel | 31 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399237726 rs1420854518 |
33 | D>N | No |
ClinGen TOPMed |
|
|
rs1159727910 CA399237710 |
35 | G>R | No |
ClinGen TOPMed |
|
|
rs1555539720 CA399237690 |
38 | P>A | No |
ClinGen Ensembl |
|
|
CA399237676 rs1344456287 |
40 | R>* | No |
ClinGen TOPMed |
|
|
rs1455449252 CA399237665 |
41 | S>R | No |
ClinGen TOPMed |
|
|
CA399237632 rs1327601507 |
46 | V>I | No |
ClinGen TOPMed |
|
|
CA399237589 rs1291330667 |
52 | V>L | No |
ClinGen TOPMed |
|
|
CA399237580 rs1374851368 |
53 | H>R | No |
ClinGen TOPMed |
|
|
rs1158085248 CA399237263 |
55 | T>M | No |
ClinGen gnomAD |
|
|
rs1473140212 CA399237230 |
59 | P>S | No |
ClinGen gnomAD |
|
|
rs1259569923 CA399237202 |
62 | A>V | No |
ClinGen gnomAD |
|
|
CA399237196 rs1485253004 |
63 | R>W | No |
ClinGen gnomAD |
|
|
CA399237118 rs1343678223 |
69 | R>Q | No |
ClinGen gnomAD |
|
|
CA399237119 rs1405349354 |
69 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1317856021 CA399237113 |
70 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA399237110 rs1157421966 |
70 | R>Q | No |
ClinGen gnomAD |
|
|
rs1317856021 CA399237112 |
70 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1335892071 CA399237079 |
73 | S>T | No |
ClinGen TOPMed |
|
|
CA399237073 rs1228029116 |
74 | R>* | No |
ClinGen TOPMed |
|
|
rs1439833877 CA399237071 |
74 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs935647647 CA290188295 |
82 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs759446077 CA290188292 |
84 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188058785 CA399236975 |
87 | K>E | No |
ClinGen gnomAD |
|
|
rs1598965509 CA399236952 |
90 | S>R | No |
ClinGen Ensembl |
|
|
rs924293839 CA290188287 |
91 | S>N | No |
ClinGen TOPMed |
|
|
CA399236928 rs1598965498 |
93 | K>Q | No |
ClinGen Ensembl |
|
|
CA399236906 rs1422977469 |
94 | L>P | No |
ClinGen TOPMed |
|
|
CA399236896 rs1177511833 |
96 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA399236895 rs1177511833 |
96 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA399236888 rs1416491529 |
97 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA399236889 rs1416491529 |
97 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1421994289 CA399236885 |
97 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1421994289 CA399236887 |
97 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1193421897 CA399236879 |
98 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1265627192 CA399236871 |
99 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1300266636 CA399236878 |
99 | Y>H | No |
ClinGen TOPMed |
|
|
CA399236861 rs1228284701 |
101 | G>R | No |
ClinGen TOPMed |
|
|
CA399236848 CA399236849 CA399236850 rs1235398417 |
102 | M>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 103 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel CA399236833 CA399236835 rs1373490278 |
104 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed gnomAD |
|
CA399236837 rs1483004221 |
104 | M>T | No |
ClinGen gnomAD |
|
|
CA399236828 rs1211647882 |
105 | N>I | No |
ClinGen TOPMed |
|
|
CA399236815 rs1440298083 |
107 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1237952975 CA399236816 |
107 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA399236808 rs1374104514 |
108 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1374104514 CA399236809 |
108 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA290188179 rs200444063 |
109 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1395642632 CA399236794 |
110 | M>I | No |
ClinGen TOPMed |
|
|
rs201365607 CA399236800 |
110 | M>L | No |
ClinGen gnomAD |
|
|
CA290188171 rs201365607 |
110 | M>V | No |
ClinGen gnomAD |
|
|
rs1434927564 CA399236785 |
111 | W>C | No |
ClinGen TOPMed |
|
|
rs1257143910 CA399236784 |
112 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1436289500 CA399236770 |
114 | L>F | No |
ClinGen gnomAD |
|
|
rs200466795 CA290188163 |
117 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1439825896 CA399236746 |
118 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 119 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1252033861 CA399236724 |
120 | M>I | No |
ClinGen gnomAD |
|
|
CA399236727 rs1598964449 |
120 | M>T | No |
ClinGen Ensembl |
|
|
CA290188160 rs201821337 |
122 | L>M | No |
ClinGen gnomAD |
|
|
CA399236712 rs1479949283 |
122 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 124 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1370379066 CA399236690 |
125 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1350448424 CA399236684 |
126 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA399236678 rs1233808398 |
127 | R>K | No |
ClinGen gnomAD |
|
|
CA399236668 rs1336486002 |
128 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA399236659 CA399236660 rs1389678620 |
129 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs200848105 CA290188156 |
129 | Q>K | No |
ClinGen gnomAD |
|
|
CA399236662 rs1269671064 |
129 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 131 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1423292842 CA399236634 |
131 | M>K | No |
ClinGen gnomAD |
|
|
rs1162995951 CA399236638 |
131 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA399236629 rs1458563844 |
132 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 133 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399236606 rs1156685393 |
135 | G>S | No |
ClinGen TOPMed |
|
|
TCGA novel rs1384054720 CA399236593 |
136 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
| TCGA novel | 137 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399236590 rs1405864019 |
137 | R>T | No |
ClinGen TOPMed |
|
|
CA399236577 rs1183698655 |
139 | S>A | No |
ClinGen gnomAD |
|
|
CA399236575 rs1456331218 |
139 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 140 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399236561 rs1325495678 |
141 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1237511149 CA399236563 |
141 | H>Y | No |
ClinGen gnomAD |
|
|
CA290188108 rs199878721 |
142 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 142 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs76064177 CA290188102 |
143 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1243678704 CA399236542 |
144 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs78805631 CA290188099 |
144 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA399236544 rs1243678704 |
144 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA290188088 rs759356297 |
146 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA290188092 rs765298758 |
146 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290188096 rs765298758 |
146 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776582422 CA399236527 |
147 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767571831 CA399236525 |
147 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767571831 CA290188078 |
147 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776582422 CA290188083 |
147 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290188074 rs552006092 |
148 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201615087 CA399236516 |
149 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs201615087 CA290188070 |
149 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1447939531 CA399236508 |
150 | S>N | No |
ClinGen gnomAD |
|
|
CA290188064 rs374010769 |
151 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1362982282 CA399236497 |
152 | T>A | No |
ClinGen TOPMed |
|
|
rs370481076 CA290188062 |
152 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399236493 rs775923643 |
153 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290188058 rs770294302 |
153 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379613383 CA399236485 |
154 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 154 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1179225456 CA399236480 |
155 | K>E | No |
ClinGen gnomAD |
|
|
CA399236475 rs781614616 |
155 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs75313926 CA290188051 |
155 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374809897 CA290188044 |
156 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201633841 CA399236460 CA290188030 |
157 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs777329943 CA290188034 |
157 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA399236465 rs1266899862 |
157 | M>V | No |
ClinGen gnomAD |
|
|
rs1309142046 CA399236454 |
158 | F>C | No |
ClinGen gnomAD |
|
| TCGA novel | 158 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757886288 CA290188025 |
159 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447890785 CA399236448 |
159 | F>S | No |
ClinGen gnomAD |
|
|
rs1379800492 CA399236441 |
160 | R>T | No |
ClinGen gnomAD |
|
|
rs752280251 CA290188019 |
161 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA290188016 rs778936372 |
162 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377708004 CA399236429 |
162 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377708004 CA290188012 |
162 | R>Q | Variant assessed as Somatic; 5.537e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs373827054 CA290188010 |
163 | Y>H | No |
ClinGen ESP |
|
|
rs760438734 CA290188000 |
164 | G>E | Variant assessed as Somatic; 0.001784 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs766187386 TCGA novel CA290188003 |
164 | G>R | Variant assessed as Somatic; 0.0 impact. Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA290187989 rs751762703 |
165 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs762959151 CA290187978 |
166 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1243563392 CA399236382 |
168 | R>Q | No |
ClinGen TOPMed |
|
|
rs1338231736 CA399236383 |
168 | R>W | No |
ClinGen TOPMed |
|
|
CA399236330 rs1341131950 |
176 | A>E | No |
ClinGen TOPMed |
|
|
rs1193853529 CA399236327 |
177 | Y>H | No |
ClinGen TOPMed |
|
|
CA399236283 rs1257253560 |
182 | P>L | No |
ClinGen TOPMed |
|
|
CA399236256 rs1217189560 |
185 | G>S | No |
ClinGen gnomAD |
|
|
rs1317462317 CA399236249 |
186 | Y>H | No |
ClinGen gnomAD |
|
|
rs1432936077 CA399236233 |
188 | R>G | No |
ClinGen gnomAD |
|
|
rs1338824359 CA399236232 |
188 | R>K | No |
ClinGen gnomAD |
|
|
CA290187815 rs369649536 |
191 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA290187812 rs372883194 |
192 | H>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA290187799 rs777155322 |
194 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA290187803 rs759650196 |
194 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA399236189 rs1471513375 |
195 | A>T | No |
ClinGen gnomAD |
|
|
CA290187785 rs761044634 |
196 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs773453827 CA290187782 |
197 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA399236168 rs1327335143 |
198 | L>F | No |
ClinGen gnomAD |
|
|
rs1598961026 CA399236167 |
198 | L>R | No |
ClinGen Ensembl |
|
|
CA399236160 rs1197132355 |
199 | L>R | No |
ClinGen gnomAD |
|
|
CA290187776 rs564935018 |
199 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399236156 rs1258927633 |
200 | Y>C | No |
ClinGen gnomAD |
|
|
rs1258927633 CA399236154 |
200 | Y>F | No |
ClinGen gnomAD |
|
|
rs1216497345 CA399236149 |
201 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA399236143 rs1354544150 |
202 | P>S | No |
ClinGen gnomAD |
|
|
CA399236145 rs1354544150 |
202 | P>T | No |
ClinGen gnomAD |
|
|
CA399236129 rs1283599889 |
204 | E>* | No |
ClinGen gnomAD |
|
|
CA399236123 rs1245622238 |
205 | D>N | No |
ClinGen gnomAD |
|
|
rs1598960920 CA399236112 |
206 | A>G | No |
ClinGen Ensembl |
|
|
rs202239897 CA290187768 |
206 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1445737494 CA399236106 |
207 | F>S | No |
ClinGen gnomAD |
|
|
CA399236090 rs1400830558 |
209 | A>G | No |
ClinGen gnomAD |
|
|
CA399236065 rs768253581 |
213 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA290187758 rs768253581 |
213 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1387625413 CA399236051 |
216 | S>C | No |
ClinGen gnomAD |
|
|
rs756005641 CA290187736 |
216 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA399236043 rs1445470726 |
217 | E>A | No |
ClinGen TOPMed |
|
|
rs1430367125 CA399236034 |
218 | R>T | No |
ClinGen TOPMed |
|
|
rs1439643837 CA399236027 |
219 | H>R | No |
ClinGen gnomAD |
|
|
rs1239128008 CA399236017 |
220 | S>F | No |
ClinGen gnomAD |
|
|
rs1174831812 CA399236007 |
222 | Q>R | No |
ClinGen TOPMed |
|
|
CA399236001 rs1253804709 |
223 | G>* | No |
ClinGen gnomAD |
|
| TCGA novel | 223 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1446124100 CA399235944 |
229 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA399235940 CA399235941 rs1381586131 |
230 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 232 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399235929 rs1330136710 |
232 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 233 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1256718029 CA399235912 |
234 | G>E | No |
ClinGen TOPMed |
|
|
rs1305109645 CA399235913 |
234 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1484013153 CA399235901 |
236 | Q>* | No |
ClinGen TOPMed |
|
|
CA399235903 rs1484013153 |
236 | Q>E | No |
ClinGen TOPMed |
|
| TCGA novel | 236 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 236 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1179788007 CA399235893 |
237 | D>Y | No |
ClinGen TOPMed |
|
|
rs1256484096 CA399235874 |
239 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA399235869 rs1478033466 |
240 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 240 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399235852 rs1438115994 |
242 | V>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 243 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1360997099 CA399235840 |
244 | A>G | No |
ClinGen TOPMed |
|
|
rs1176840235 CA399235843 |
244 | A>P | No |
ClinGen TOPMed |
|
|
rs1176840235 CA399235842 |
244 | A>T | No |
ClinGen TOPMed |
|
|
CA399235834 rs1341441750 |
245 | T>K | No |
ClinGen TOPMed |
|
|
CA399235832 rs1341441750 |
245 | T>M | No |
ClinGen TOPMed |
|
|
rs1341441750 CA399235833 |
245 | T>R | No |
ClinGen TOPMed |
|
|
CA399235821 rs1276769969 |
247 | Q>R | No |
ClinGen TOPMed |
|
|
CA399235817 rs1369570049 |
248 | S>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 248 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1369570049 CA399235815 |
248 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1278667668 CA399235814 |
248 | S>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 250 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399235796 rs1323549948 |
251 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1207516061 CA399235788 |
252 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 252 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1279168010 CA399235780 |
253 | H>Y | No |
ClinGen TOPMed |
|
|
rs1488445867 CA399235767 |
254 | Q>H | No |
ClinGen TOPMed |
|
|
CA399235742 rs1315424840 |
256 | K>M | No |
ClinGen TOPMed |
|
|
rs1266455206 CA399235728 |
258 | D>Y | No |
ClinGen TOPMed |
|
|
rs1489736839 CA399235707 |
261 | G>W | No |
ClinGen TOPMed |
|
|
rs1395956039 CA399235676 |
265 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1395956039 CA399235677 |
265 | P>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 268 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399235659 rs1250532872 |
268 | C>Y | No |
ClinGen TOPMed |
|
|
CA399235652 rs1195704026 |
269 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA399235653 rs1195704026 |
269 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA399235639 rs1246185365 |
271 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1452716399 CA399235640 |
271 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA399235607 rs1182518677 CA399235606 |
276 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA399235570 rs1402806565 |
280 | G>R | No |
ClinGen TOPMed |
|
|
CA399235545 rs1316759361 |
284 | R>C | No |
ClinGen TOPMed |
|
|
CA399235544 rs1231609801 |
284 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1372570609 CA399235517 |
288 | V>L | No |
ClinGen TOPMed |
|
|
rs1302229742 CA399235480 |
294 | E>K | No |
ClinGen TOPMed |
|
|
rs1225236932 CA399235459 |
296 | A>E | No |
ClinGen TOPMed |
|
|
rs1225236932 CA399235460 |
296 | A>V | No |
ClinGen TOPMed |
|
|
rs1446311306 CA399235437 |
299 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1467200539 CA399235409 |
304 | A>T | No |
ClinGen TOPMed |
|
|
CA399235343 rs1443673580 |
311 | R>C | No |
ClinGen gnomAD |
|
|
CA399235342 rs1252687841 |
311 | R>H | No |
ClinGen TOPMed |
|
|
CA399235328 rs1338075508 |
313 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA399235314 rs1327393946 |
315 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA399235301 rs1413083986 |
317 | R>S | No |
ClinGen TOPMed |
|
|
rs1555538502 CA399235306 |
317 | R>W | No |
ClinGen Ensembl |
|
|
rs1555538496 CA399235281 |
320 | P>L | No |
ClinGen Ensembl |
|
|
CA399235284 rs1429200430 |
320 | P>S | No |
ClinGen TOPMed |
|
|
rs780951089 CA290187672 |
323 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780951089 CA399235264 |
323 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399235263 rs1313814651 |
323 | R>H | No |
ClinGen TOPMed |
|
|
rs780951089 CA399235265 |
323 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399235250 rs1377661305 |
325 | C>G | No |
ClinGen TOPMed |
|
|
rs1413400253 CA399235245 |
325 | C>W | No |
ClinGen TOPMed |
|
|
CA399235237 rs1312799835 |
326 | N>K | No |
ClinGen TOPMed |
|
|
rs1363344418 CA399235233 |
327 | R>P | No |
ClinGen TOPMed |
|
|
CA399235223 rs1297150146 |
329 | V>I | No |
ClinGen TOPMed |
|
|
rs1297150146 CA399235222 |
329 | V>L | No |
ClinGen TOPMed |
|
|
CA399235215 rs1598957308 |
330 | D>Y | No |
ClinGen Ensembl |
|
|
CA399235204 rs1411424131 |
331 | T>I | No |
ClinGen TOPMed |
|
|
rs1411424131 CA399235206 |
331 | T>N | No |
ClinGen TOPMed |
|
|
rs1227245278 CA399235209 |
331 | T>P | No |
ClinGen TOPMed |
|
|
rs1236823157 CA399235190 |
333 | A>G | No |
ClinGen TOPMed |
|
|
rs1376425790 CA399235186 |
334 | R>K | No |
ClinGen gnomAD |
|
|
CA399235167 rs1381485068 CA399235166 |
336 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1449028373 CA399235161 |
337 | D>G | No |
ClinGen TOPMed |
|
|
rs1179302134 CA399235143 |
340 | L>F | No |
ClinGen gnomAD |
|
|
rs1433232654 CA399235127 |
342 | H>P | No |
ClinGen TOPMed |
|
|
CA399235100 rs1175855582 |
346 | S>C | No |
ClinGen TOPMed |
|
|
rs1477281307 CA399235097 |
347 | M>L | No |
ClinGen gnomAD |
|
|
CA399235093 rs1346273039 |
347 | M>R | No |
ClinGen TOPMed |
|
|
CA399235096 rs1477281307 |
347 | M>V | No |
ClinGen gnomAD |
|
|
CA399235088 rs1246309884 |
348 | K>E | No |
ClinGen gnomAD |
|
|
CA290187668 rs306818 |
354 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290187665 rs1025766046 |
356 | D>Y | No |
ClinGen TOPMed |
|
|
rs1283928399 CA399235026 |
357 | L>V | No |
ClinGen gnomAD |
|
|
rs1471171666 CA399235018 |
358 | P>Q | No |
ClinGen gnomAD |
|
|
CA399235014 rs1433814851 |
359 | P>S | No |
ClinGen TOPMed |
|
|
CA399234951 rs1555538331 |
366 | G>V | No |
ClinGen Ensembl |
|
|
CA399234941 rs1317503235 |
368 | S>L | No |
ClinGen TOPMed |
|
|
rs1284461870 CA399234902 |
374 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA399234888 rs1477236749 |
377 | R>G | No |
ClinGen TOPMed |
|
|
rs1177644282 CA399234877 |
379 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1473876520 CA399234857 |
381 | T>S | No |
ClinGen TOPMed |
|
|
rs1385822905 CA399234853 |
382 | L>F | No |
ClinGen TOPMed |
|
|
rs1456322277 CA399234850 |
382 | L>P | No |
ClinGen TOPMed |
|
|
CA399234833 rs1323806999 |
385 | G>R | No |
ClinGen TOPMed |
|
|
CA399234826 rs1434006633 |
386 | D>H | No |
ClinGen TOPMed |
|
|
rs1434006633 CA399234825 |
386 | D>Y | No |
ClinGen TOPMed |
|
|
CA399234813 rs1481506025 |
387 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA399234796 rs1278348797 |
390 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA399234784 rs1286459040 |
392 | G>C | No |
ClinGen TOPMed |
|
| TCGA novel | 393 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1228308331 CA399234768 |
395 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA399234760 rs1555538311 |
396 | R>Q | No |
ClinGen Ensembl |
|
|
CA399234761 rs1261322959 |
396 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA399234746 rs1356575067 |
398 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA399234743 rs1193023938 |
399 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1180655841 CA399234740 |
399 | R>Q | No |
ClinGen TOPMed |
|
|
rs1193023938 CA399234742 |
399 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1598955626 CA399234714 |
403 | S>T | No |
ClinGen Ensembl |
|
|
CA399234693 rs1488697631 |
406 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1471972722 CA399234684 |
408 | R>L | No |
ClinGen TOPMed |
|
|
CA399234667 rs1319178864 |
411 | R>C | No |
ClinGen gnomAD |
|
|
rs1415477166 CA399234666 |
411 | R>H | No |
ClinGen TOPMed |
|
|
CA399234652 rs1402566018 |
413 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1322575754 CA399234635 |
416 | C>S | No |
ClinGen TOPMed |
|
|
CA399234603 rs1207871706 |
421 | V>A | No |
ClinGen gnomAD |
|
|
CA399234600 rs1158423029 |
422 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1411500339 CA399234596 |
423 | E>K | No |
ClinGen TOPMed |
|
|
CA399234579 rs1306090893 |
425 | T>A | No |
ClinGen TOPMed |
|
|
rs1349849164 CA399234565 |
427 | P>A | No |
ClinGen TOPMed |
|
|
rs1275057002 CA399234554 |
429 | G>S | No |
ClinGen Ensembl |
|
|
CA399234542 rs1448809842 |
431 | Q>K | No |
ClinGen TOPMed |
|
|
CA399234530 rs1286060615 |
432 | G>A | No |
ClinGen TOPMed |
|
|
rs1274074937 CA399234520 |
434 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 435 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399234504 rs1203527743 |
436 | P>R | No |
ClinGen TOPMed |
|
|
rs1486310623 CA399234502 |
437 | A>T | No |
ClinGen TOPMed |
|
|
rs1187595945 CA399234495 |
438 | L>V | No |
ClinGen TOPMed |
|
|
rs1238710793 CA399234487 |
439 | A>G | No |
ClinGen TOPMed |
|
|
CA399234476 rs1471574579 |
441 | G>R | No |
ClinGen TOPMed |
|
|
CA399234433 rs1166536346 |
447 | W>* | No |
ClinGen TOPMed |
|
|
CA399234432 rs1166536346 |
447 | W>C | No |
ClinGen TOPMed |
|
|
rs1369820971 CA399234428 |
448 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 450 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399234373 rs1415002769 |
455 | M>I | No |
ClinGen TOPMed |
|
|
rs1598955441 CA399234379 |
455 | M>L | No |
ClinGen Ensembl |
|
|
CA399234365 rs1338788155 |
456 | P>L | No |
ClinGen TOPMed |
|
|
CA399234370 rs1225129808 |
456 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA399234368 rs1225129808 |
456 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1447464737 CA399234362 |
457 | R>C | No |
ClinGen TOPMed |
|
|
rs1298598886 CA399234361 |
457 | R>H | No |
ClinGen TOPMed |
|
|
rs1598955395 CA399234358 |
458 | L>I | No |
ClinGen Ensembl |
|
|
CA399234345 rs1315665075 |
460 | T>A | No |
ClinGen gnomAD |
|
|
rs1277247660 CA399234341 |
460 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA399234344 rs1315665075 |
460 | T>S | No |
ClinGen gnomAD |
|
|
CA399234320 rs1277194952 |
463 | D>E | No |
ClinGen TOPMed |
|
|
CA399234319 rs1440193992 |
464 | V>I | No |
ClinGen TOPMed |
|
|
rs1248236662 CA399234306 CA399234307 |
465 | E>D | No |
ClinGen TOPMed |
|
|
CA399234299 rs1186395748 |
467 | P>T | No |
ClinGen TOPMed |
|
|
CA399234285 rs1389323939 |
468 | W>C | No |
ClinGen TOPMed |
|
|
CA399234273 rs1466432927 |
470 | R>H | No |
ClinGen TOPMed |
|
|
rs1413945119 CA399234264 |
471 | H>Q | No |
ClinGen TOPMed |
|
|
rs1174231189 CA399234266 |
471 | H>R | No |
ClinGen TOPMed |
|
|
rs1266928756 CA399234240 |
474 | F>L | No |
ClinGen gnomAD |
|
|
CA399234235 rs1213698147 |
475 | R>T | No |
ClinGen gnomAD |
|
|
rs1391038891 CA399234220 |
477 | S>N | No |
ClinGen TOPMed |
|
|
CA399234194 rs1295596975 |
480 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA399234190 rs1446414422 |
481 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA399234191 rs1446414422 |
481 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1235976310 CA399234189 |
481 | R>H | No |
ClinGen TOPMed |
|
|
rs1598955260 CA399234180 |
483 | I>L | No |
ClinGen Ensembl |
|
|
rs1344985715 CA399234174 |
483 | I>M | No |
ClinGen TOPMed |
|
|
rs1359104490 CA399234172 |
484 | S>P | No |
ClinGen gnomAD |
|
|
CA399234170 rs1337741128 |
484 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA399234165 rs1598955220 |
485 | Q>K | No |
ClinGen Ensembl |
|
|
CA399234163 rs1471194537 |
485 | Q>R | No |
ClinGen gnomAD |
|
|
CA399234159 rs1268247789 |
486 | E>K | No |
ClinGen TOPMed |
|
|
CA399234149 rs1465922620 |
487 | D>N | No |
ClinGen TOPMed |
|
|
rs1206452784 CA399234133 |
489 | L>P | No |
ClinGen TOPMed |
|
|
CA399234127 rs1247090766 |
490 | A>D | No |
ClinGen TOPMed |
|
| TCGA novel | 490 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1598955178 CA399234128 |
490 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 490 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1200783222 CA399234119 |
491 | P>L | No |
ClinGen TOPMed |
|
|
rs1429178202 CA399234100 |
494 | Q>* | No |
ClinGen gnomAD |
|
|
rs1343589656 CA399234097 |
494 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA399234089 rs1159945894 |
495 | A>G | No |
ClinGen TOPMed |
|
|
rs1421688407 CA399234092 |
495 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA399234061 rs1461988104 |
499 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA399234060 rs1461988104 |
499 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA399234051 rs78834724 |
501 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1330990718 CA399234049 |
501 | R>P | No |
ClinGen TOPMed |
|
|
CA290187614 rs78834724 |
501 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1205321903 CA399234038 |
503 | R>T | No |
ClinGen gnomAD |
|
|
rs1456303347 CA399234031 |
504 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1456303347 CA399234029 |
504 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1162668340 CA399234033 |
504 | S>P | No |
ClinGen gnomAD |
|
|
CA399234027 rs1257000115 |
505 | A>P | No |
ClinGen gnomAD |
|
|
CA290187611 rs753879262 |
506 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA399234015 rs1309881985 |
507 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1265034854 CA399234010 |
507 | A>V | No |
ClinGen TOPMed |
|
|
rs761083722 CA290187604 |
510 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1158586784 CA399233992 |
510 | S>R | No |
ClinGen TOPMed |
|
|
CA399233997 rs761083722 |
510 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1471634819 CA399233994 |
510 | S>T | No |
ClinGen TOPMed |
|
|
CA399233981 rs1161756237 |
512 | D>A | No |
ClinGen TOPMed |
|
|
rs1459669596 CA399233983 |
512 | D>H | No |
ClinGen TOPMed |
|
|
CA290187601 rs773830359 |
513 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA290187599 rs767973891 |
514 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA399233964 rs1410889943 |
515 | Q>* | No |
ClinGen TOPMed |
|
|
rs1331134043 CA399233947 |
517 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1331134043 CA399233945 |
517 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1462627092 CA399233940 |
518 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs762312860 CA290187598 |
519 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399233920 rs768433492 |
521 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA290187589 rs768433492 |
521 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA399233922 rs1423383669 |
521 | A>S | No |
ClinGen gnomAD |
|
|
rs768433492 CA399233921 |
521 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1437771727 CA399233912 |
523 | D>N | No |
ClinGen gnomAD |
|
|
rs1176653230 CA399233899 |
524 | E>D | No |
ClinGen TOPMed |
|
|
rs1482047014 CA399233901 |
524 | E>G | No |
ClinGen TOPMed |
|
|
CA290187576 rs769401064 |
524 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 526 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1598954801 CA399233882 |
526 | Q>P | No |
ClinGen Ensembl |
|
|
CA290187572 rs745769652 |
527 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399233868 rs1220181430 |
528 | A>G | No |
ClinGen gnomAD |
|
|
CA399233871 rs1185672758 |
528 | A>P | No |
ClinGen TOPMed |
|
|
CA399233872 rs1185672758 |
528 | A>T | No |
ClinGen TOPMed |
|
|
CA399233861 rs1368179499 |
529 | P>L | No |
ClinGen TOPMed |
|
|
CA290187571 rs781145422 |
532 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1321838890 CA399233848 |
532 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 532 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757005715 CA399233839 |
533 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA290187569 rs757005715 |
533 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA399233833 rs1170924523 |
534 | C>F | No |
ClinGen TOPMed |
|
|
CA399233834 rs1170924523 |
534 | C>S | No |
ClinGen TOPMed |
|
|
CA399233829 rs1369192205 |
535 | L>V | No |
ClinGen TOPMed |
|
|
rs1379251488 CA399233816 |
537 | G>S | No |
ClinGen TOPMed |
|
|
CA399233802 rs1397341981 |
539 | H>Y | No |
ClinGen TOPMed |
|
|
rs1381655498 CA399233791 |
540 | L>F | No |
ClinGen TOPMed |
|
|
rs779049421 CA290187559 |
542 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1228808169 CA399233780 |
542 | S>R | No |
ClinGen TOPMed |
|
|
rs1339894711 CA399233775 |
542 | S>R | No |
ClinGen TOPMed |
|
|
CA399233773 rs1203751146 |
543 | S>P | No |
ClinGen TOPMed |
|
|
rs1256576960 CA399233767 |
544 | Q>K | No |
ClinGen TOPMed |
|
|
rs1484274338 CA399233754 |
545 | F>L | No |
ClinGen TOPMed |
|
|
rs1375793285 CA399233745 |
547 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1242733821 CA399233725 |
550 | F>Q | No |
ClinGen TOPMed |
|
|
rs1292038722 CA399233722 |
550 | F>W | No |
ClinGen gnomAD |
No associated diseases with A6NDS4
1 regional properties for A6NDS4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Rab-GAP-TBC domain | 98 - 316 | IPR000195 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 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. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of GTPase activity | Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP. |
29 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5R372 | RABGAP1L | Rab GTPase-activating protein 1-like | Homo sapiens (Human) | PR |
| A0A087X1G2 | TBC1D3K | TBC1 domain family member 3K | Homo sapiens (Human) | PR |
| B9A6J9 | TBC1D3L | TBC1 domain family member 3L | Homo sapiens (Human) | PR |
| A0A087WVF3 | TBC1D3D | TBC1 domain family member 3D | Homo sapiens (Human) | PR |
| A0A087WXS9 | TBC1D3I | TBC1 domain family member 3I | Homo sapiens (Human) | PR |
| A0A087X179 | TBC1D3E | TBC1 domain family member 3E | Homo sapiens (Human) | PR |
| P0C7X1 | TBC1D3H | TBC1 domain family member 3H | Homo sapiens (Human) | PR |
| Q6DHY5 | TBC1D3G | TBC1 domain family member 3G | Homo sapiens (Human) | PR |
| Q9HA65 | TBC1D17 | TBC1 domain family member 17 | Homo sapiens (Human) | PR |
| Q66K14 | TBC1D9B | TBC1 domain family member 9B | Homo sapiens (Human) | PR |
| Q6ZT07 | TBC1D9 | TBC1 domain family member 9 | Homo sapiens (Human) | PR |
| Q8WUA7 | TBC1D22A | TBC1 domain family member 22A | Homo sapiens (Human) | PR |
| Q8IZP1 | TBC1D3 | TBC1 domain family member 3 | Homo sapiens (Human) | PR |
| Q6IPX1 | TBC1D3C | TBC1 domain family member 3C | Homo sapiens (Human) | PR |
| A6NER0 | TBC1D3F | TBC1 domain family member 3F | Homo sapiens (Human) | PR |
| Q8IV04 | TBC1D10C | Carabin | Homo sapiens (Human) | PR |
| Q5TC63 | GRTP1 | Growth hormone-regulated TBC protein 1 | Homo sapiens (Human) | PR |
| O60343 | TBC1D4 | TBC1 domain family member 4 | Homo sapiens (Human) | PR |
| Q86TI0 | TBC1D1 | TBC1 domain family member 1 | Homo sapiens (Human) | PR |
| O60447 | EVI5 | Ecotropic viral integration site 5 protein homolog | Homo sapiens (Human) | PR |
| Q3MII6 | TBC1D25 | TBC1 domain family member 25 | Homo sapiens (Human) | PR |
| Q2NKQ1 | SGSM1 | Small G protein signaling modulator 1 | Homo sapiens (Human) | PR |
| Q8TC07 | TBC1D15 | TBC1 domain family member 15 | Homo sapiens (Human) | PR |
| O95759 | TBC1D8 | TBC1 domain family member 8 | Homo sapiens (Human) | PR |
| Q0IIM8 | TBC1D8B | TBC1 domain family member 8B | Homo sapiens (Human) | PR |
| Q8TEA7 | TBCK | TBC domain-containing protein kinase-like protein | Homo sapiens (Human) | PR |
| Q9UPU7 | TBC1D2B | TBC1 domain family member 2B | Homo sapiens (Human) | PR |
| A6H6A9 | Rabgap1l | Rab GTPase-activating protein 1-like | Mus musculus (Mouse) | PR |
| Q80XC3 | Usp6nl | USP6 N-terminal-like protein | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDVVEVAGSW | WAQEREDIIM | KYEKGHRAGL | PEDKGPKPFR | SYNNNVDHLG | IVHETELPPL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TAREAKQIRR | EISRKSKWVD | MLGDWEKYKS | SRKLIDRAYK | GMPMNIRGPM | WSVLLNIEEM |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KLKNPGRYQI | MKEKGKRSSE | HIQRIDRDIS | GTLRKHMFFR | DRYGTKQREL | LHILLAYEEY |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NPEVGYCRDL | SHIAALFLLY | LPEEDAFWAL | VQLLASERHS | LQGFHSPNGG | TVQGLQDQQE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HVVATSQSKT | MGHQDKKDLC | GQCSPLGCLI | RILIDGISLG | LTLRLWDVYL | VEGEQALMPI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TRIAFKVQQK | RLTKTSRCGP | WARFCNRFVD | TWARDEDTVL | KHLRASMKKL | TRKQGDLPPP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AKPEQGSSAS | RPVPASRGRK | TLCKGDRQAP | PGPPARFPRP | IWSASPPRAP | RSSTPCPGGA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VREDTYPVGT | QGVPSPALAQ | GGPQGSWRFL | QWNSMPRLPT | DLDVEGPWFR | HYDFRQSCWV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RAISQEDQLA | PCWQAEHPAE | RVRSAFAAPS | TDSDQGTPFR | ARDEQQCAPT | SGPCLCGLHL |
| ESSQFPPGF |