Q8IUF1
Gene name |
ZNG1B |
Protein name |
Zinc-regulated GTPase metalloprotein activator 1B |
Names |
Cobalamin synthase W domain-containing protein 2, COBW domain-containing protein 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:150472 |
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 Q8IUF1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8IUF1-F1 | Predicted | AlphaFoldDB |
280 variants for Q8IUF1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs140753748 CA1840550 |
3 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1840551 rs756664315 |
3 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436900255 CA348310842 |
4 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
TCGA novel CA348310855 rs1470662071 |
6 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA1840554 rs2475446 |
8 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348310883 rs1302070121 |
9 | D>E | No |
ClinGen TOPMed |
|
|
CA348310880 rs746718702 |
9 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746718702 CA1840556 |
9 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1840555 rs779692251 |
9 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768154666 CA1840558 |
10 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1840561 rs145583603 |
12 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs145583603 CA348310922 |
12 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1278593349 CA348310957 |
14 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1278593349 CA348310959 |
14 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1284320656 CA348310988 |
16 | E>G | No |
ClinGen gnomAD |
|
|
CA348310984 rs1225797515 |
16 | E>K | No |
ClinGen gnomAD |
|
|
rs769728276 CA348311024 |
18 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323495602 CA348311021 |
18 | D>V | No |
ClinGen gnomAD |
|
|
rs773198947 CA1840563 |
19 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1840564 rs762863119 |
21 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA348311046 rs1266875176 |
21 | E>D | No |
ClinGen TOPMed |
|
|
CA348311054 rs1203840504 |
22 | L>F | No |
ClinGen gnomAD |
|
|
rs374912448 CA53728487 |
23 | V>F | No |
ClinGen ESP gnomAD |
|
|
rs1490901879 CA348311067 |
25 | M>V | No |
ClinGen gnomAD |
|
|
rs771048315 CA1840565 |
26 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1840566 rs774263231 |
27 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1840567 rs759830894 |
28 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA1840568 rs767581923 |
29 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348311109 rs1410052837 |
31 | E>K | No |
ClinGen gnomAD |
|
|
CA1840572 rs754448906 |
35 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs757811718 CA1840573 |
37 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs373120143 CA1840574 |
38 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754672635 CA348311224 |
39 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754672635 CA1840576 |
39 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 41 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296158076 CA348311295 |
44 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 45 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 46 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1354323632 CA348311337 |
47 | I>M | No |
ClinGen TOPMed |
|
|
CA348311328 rs1268402378 |
47 | I>V | No |
ClinGen gnomAD |
|
|
CA1840580 rs777521352 |
48 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348311354 rs1243832215 |
49 | G>V | No |
ClinGen gnomAD |
|
|
rs1481992717 CA348311633 |
52 | G>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 54 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348311659 rs1387682477 |
56 | T>K | No |
ClinGen gnomAD |
|
|
rs1196973720 CA348311668 |
57 | T>I | No |
ClinGen gnomAD |
|
|
rs199530319 CA53729834 |
60 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1291596502 CA348311683 |
60 | N>T | No |
ClinGen TOPMed |
|
|
CA348311691 rs1325192415 |
61 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1325192415 CA348311690 |
61 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs762202506 CA1840610 |
62 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553436092 CA348311709 |
64 | T>A | No |
ClinGen Ensembl |
|
|
CA53729839 rs535124182 |
66 | Q>* | No |
ClinGen 1000Genomes |
|
|
rs1461045215 CA348311738 |
68 | S>G | No |
ClinGen TOPMed |
|
|
CA348311753 rs1573673581 |
70 | R>G | No |
ClinGen Ensembl |
|
|
CA348311760 rs1480939783 |
71 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA348311761 rs1480939783 |
71 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1573673618 CA348311767 |
72 | A>P | No |
ClinGen Ensembl |
|
|
rs1176009571 CA348311769 |
72 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1318165971 CA348311796 |
76 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1553436114 CA348311811 |
78 | F>Y | No |
ClinGen Ensembl |
|
|
CA348311816 rs1451240291 |
79 | G>W | No |
ClinGen TOPMed |
|
|
rs907259389 CA53729848 |
80 | E>G | No |
ClinGen TOPMed |
|
|
rs1225457716 CA348311844 |
81 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA348311846 rs1225457716 |
81 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1840627 rs200825474 |
82 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348311858 rs988621436 |
83 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA53730738 rs988621436 |
83 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA53730744 rs914410924 |
84 | L>M | No |
ClinGen TOPMed |
|
|
CA348311884 rs1221377427 |
87 | S>F | No |
ClinGen gnomAD |
|
|
rs1487027669 CA348311895 |
89 | A>G | No |
ClinGen gnomAD |
|
|
CA348311916 rs1189814055 |
92 | Q>R | No |
ClinGen gnomAD |
|
|
rs1240919241 CA348311925 |
93 | G>V | No |
ClinGen TOPMed |
|
|
rs1447746658 CA348311926 |
94 | G>R | No |
ClinGen gnomAD |
|
|
CA348311940 rs1314321335 |
96 | L>V | No |
ClinGen TOPMed |
|
|
CA348311949 rs1185484020 |
97 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA348311951 rs1185484020 |
97 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA348311954 rs1386173166 |
98 | E>K | No |
ClinGen gnomAD |
|
|
CA348311962 rs1384323371 |
99 | E>K | No |
ClinGen TOPMed |
|
|
rs1224710382 CA348311988 |
102 | E>G | No |
ClinGen Ensembl |
|
|
rs1423435484 CA348311984 |
102 | E>K | No |
ClinGen gnomAD |
|
|
rs1158343310 CA348312000 |
104 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs201389016 CA53730760 |
106 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA348312025 rs1573680811 |
107 | C>W | No |
ClinGen Ensembl |
|
|
CA348312030 rs1573680829 |
108 | L>P | No |
ClinGen Ensembl |
|
|
CA348312036 rs1385229395 |
109 | C>F | No |
ClinGen TOPMed |
|
|
CA348312033 rs1573680843 |
109 | C>R | No |
ClinGen Ensembl |
|
|
CA348312037 rs1385229395 |
109 | C>Y | No |
ClinGen TOPMed |
|
|
rs200145218 CA1840628 |
110 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA535244752 rs1340545541 |
111 | S>* | No |
ClinGen gnomAD |
|
|
rs1573680946 CA348312061 |
113 | K>* | No |
ClinGen Ensembl |
|
|
CA1840636 rs774990656 |
115 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348312094 rs1411234538 |
116 | G>S | No |
ClinGen gnomAD |
|
|
CA348312118 rs1338572643 |
119 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1840639 rs753543790 |
120 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs763586852 CA1840638 |
120 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs944611365 CA53731063 |
123 | L>S | No |
ClinGen Ensembl |
|
|
CA1840640 rs761498305 |
125 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 126 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1279176326 CA348312268 |
128 | G>R | No |
ClinGen TOPMed |
|
|
rs764974768 CA1840641 |
130 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765855293 CA1840642 |
131 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1558899912 CA348312319 |
131 | D>Y | No |
ClinGen Ensembl |
|
|
CA348312345 rs1286617278 |
132 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
CA348312405 rs1303046191 |
135 | L>* | No |
ClinGen TOPMed |
|
|
CA348312434 rs1558900017 |
137 | T>N | No |
ClinGen Ensembl |
|
|
rs143982835 CA1840643 |
137 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780070293 CA1840644 |
138 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA1840645 rs751538696 |
139 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA1840646 rs751538696 |
139 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA1840647 rs781401313 |
140 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA348312511 rs1483501684 |
142 | D>E | No |
ClinGen gnomAD |
|
|
CA1840648 rs748357002 |
142 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748357002 CA348312499 |
142 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770017121 CA1840649 |
143 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA348312515 rs1182680823 |
143 | P>S | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA348313660 rs749463741 |
144 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1840673 rs749463741 |
144 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348313674 rs1331828653 |
146 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs771340569 CA1840677 |
148 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs772522960 CA1840680 |
149 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs779225253 CA1840678 |
149 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs779225253 CA1840679 |
149 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA348313752 rs1402401836 |
151 | W>* | No |
ClinGen TOPMed |
|
|
rs776135902 CA1840681 |
151 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs1173560285 CA348313762 |
152 | V>A | No |
ClinGen TOPMed |
|
|
rs1173560285 CA348313761 |
152 | V>D | No |
ClinGen TOPMed |
|
| TCGA novel | 153 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1341010206 CA348313767 |
153 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1840682 rs761324630 |
153 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1341010206 CA348313768 |
153 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs769182972 CA1840683 |
154 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1840684 rs772977285 |
157 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA1840707 rs748976990 |
164 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1451423699 CA348313842 |
164 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs748976990 CA348313856 |
164 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA348313858 rs1163797532 |
165 | I>V | No |
ClinGen gnomAD |
|
|
rs1415631039 CA348313864 |
166 | I>L | No |
ClinGen gnomAD |
|
| TCGA novel | 166 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458725391 CA348313876 |
167 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 167 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1840708 rs559773200 |
168 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs559773200 CA1840709 |
168 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348313900 rs1219010322 |
171 | S>* | No |
ClinGen TOPMed |
|
|
rs1427959168 CA348313903 |
172 | K>E | No |
ClinGen gnomAD |
|
|
rs767415398 CA1840711 |
174 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs775555744 CA1840712 |
175 | L>F | No |
ClinGen ExAC TOPMed |
|
|
rs760686794 CA1840737 |
179 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs2785346 CA53737107 |
179 | A>T | No |
ClinGen Ensembl |
|
|
rs200424294 CA53737122 |
180 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1268572226 CA348314484 |
181 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1268572226 CA348314486 |
181 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA1840738 rs768420618 |
182 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA348314538 rs1407405317 |
187 | I>V | No |
ClinGen TOPMed |
|
|
CA1840741 rs542958391 |
188 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750696528 CA1840742 |
192 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761720756 CA1840758 |
193 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1840759 rs769905818 |
194 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1184992164 CA348314717 |
199 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs3203717 CA53738127 |
199 | A>V | No |
ClinGen gnomAD |
|
|
rs376064146 CA1840761 |
202 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766451868 CA1840762 |
203 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA53738164 rs768422582 |
203 | N>Y | No |
ClinGen Ensembl |
|
|
CA348314801 rs1415274871 |
205 | T>A | No |
ClinGen gnomAD |
|
|
CA348314806 rs751954865 |
205 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1840763 rs751954865 |
205 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs759880703 CA1840764 |
208 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs759880703 CA348314839 |
208 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs939006970 CA53738187 |
210 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 211 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1840767 rs767906734 |
214 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348314918 rs1346456603 COSM1005703 |
214 | K>N | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA1840768 rs144687267 |
214 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778595036 CA1840770 |
217 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs886802765 CA53738212 |
217 | R>S | No |
ClinGen TOPMed |
|
|
CA348314956 rs144103320 |
218 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA53738215 rs71416525 |
218 | A>T | No |
ClinGen Ensembl |
|
|
CA1840771 rs144103320 |
218 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779641221 CA1840773 |
219 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1416222543 CA348315147 |
221 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs927505767 CA53739255 |
222 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA348315156 rs1354155615 |
223 | I>T | No |
ClinGen gnomAD |
|
|
rs530131254 CA53739256 |
223 | I>V | No |
ClinGen 1000Genomes |
|
|
rs1421652251 CA348315165 |
224 | N>K | No |
ClinGen TOPMed |
|
|
CA53739257 rs938931462 |
228 | Q>R | No |
ClinGen TOPMed |
|
|
CA348315208 rs1573735904 |
231 | E>A | No |
ClinGen Ensembl |
|
|
rs1375025492 CA348315223 |
233 | Q>R | No |
ClinGen TOPMed |
|
|
CA348315241 rs1196431855 |
236 | R>* | No |
ClinGen TOPMed |
|
|
CA348315244 rs1453576394 |
236 | R>T | No |
ClinGen TOPMed |
|
|
rs562310973 CA1840794 |
237 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1261282878 CA348315270 |
238 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA348315271 rs1261282878 |
238 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1840795 rs371712727 |
239 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749231554 CA1840797 |
240 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs13339786 CA1840798 |
242 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA348315302 rs1164085221 |
243 | L>* | No |
ClinGen gnomAD |
|
|
CA348315309 rs1391651972 |
244 | D>G | No |
ClinGen gnomAD |
|
|
rs1436569405 CA348315315 |
245 | L>V | No |
ClinGen gnomAD |
|
|
CA1840799 rs199832921 |
247 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1840800 rs746107134 |
247 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs772370167 CA1840801 |
248 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs761190765 CA1840803 |
250 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA1840804 rs764540497 |
250 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs777054336 CA1840805 |
252 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348315366 rs1331384000 |
253 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1840806 rs762354322 |
255 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 255 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1260405180 CA348315379 |
255 | S>T | No |
ClinGen gnomAD |
|
|
CA348316471 rs1212522730 |
258 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA53748254 rs1021672693 |
258 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1426195215 CA348316515 |
262 | H>L | No |
ClinGen TOPMed |
|
|
rs1426195215 CA348316513 |
262 | H>P | No |
ClinGen TOPMed |
|
|
rs1281229210 CA348316517 |
262 | H>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 262 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1387883225 CA348316525 |
263 | V>A | No |
ClinGen TOPMed |
|
|
rs879513104 CA53748264 |
264 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs969202273 CA53748275 |
266 | T>A | No |
ClinGen TOPMed |
|
|
rs1209879142 CA348316556 |
267 | Q>P | No |
ClinGen gnomAD |
|
|
rs980220150 CA53748287 |
268 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA348316578 rs200305938 |
269 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA348316593 rs1406646897 |
271 | D>H | No |
ClinGen gnomAD |
|
|
CA53748293 rs937880614 |
272 | Q>E | No |
ClinGen TOPMed |
|
|
CA53750914 rs911737589 |
273 | S>N | No |
ClinGen TOPMed |
|
|
CA348316848 rs1279413381 |
277 | I>N | No |
ClinGen gnomAD |
|
|
CA348316844 rs1443598521 |
277 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA348316855 rs1222433757 |
278 | T>I | No |
ClinGen TOPMed |
|
|
CA53750917 rs944596416 |
280 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA348316900 rs1221008100 |
285 | A>E | No |
ClinGen gnomAD |
|
|
CA348316922 rs1347392478 |
288 | E>A | No |
ClinGen gnomAD |
|
|
rs1280497502 CA348316934 |
289 | H>Q | No |
ClinGen TOPMed |
|
|
rs1233358376 CA348316946 |
291 | N>I | No |
ClinGen gnomAD |
|
|
CA348316951 rs1277954542 |
292 | M>L | No |
ClinGen gnomAD |
|
|
CA348316953 rs1439299584 |
292 | M>T | No |
ClinGen gnomAD |
|
|
rs1300011002 CA348317014 |
299 | W>G | No |
ClinGen gnomAD |
|
|
rs199843165 CA53750983 |
303 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA348317068 rs1354150436 |
306 | K>T | No |
ClinGen TOPMed |
|
|
rs1305669156 CA348317085 |
308 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1415922723 CA348317091 |
309 | H>Y | No |
ClinGen TOPMed |
|
|
CA348317102 rs1285181113 |
310 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA348317120 rs1453382278 |
312 | E>D | No |
ClinGen TOPMed |
|
|
CA348317153 rs1487387075 |
316 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA1840834 rs374153631 |
322 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1359185768 CA348317283 |
324 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA348317285 rs1359185768 |
324 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA348317393 rs1269399187 |
333 | G>A | No |
ClinGen gnomAD |
|
|
rs757154117 CA1840837 |
333 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757154117 CA1840836 |
333 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1840838 rs551366691 |
335 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1840840 rs780250768 |
336 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758600128 CA1840839 |
336 | E>K | No |
ClinGen ExAC |
|
|
CA348317429 rs1385229466 |
337 | L>I | No |
ClinGen gnomAD |
|
|
CA53751289 rs768954597 |
338 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768954597 CA1840842 |
338 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348317478 rs1211268397 |
341 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs781425560 CA1840843 |
344 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1408704386 CA348317523 |
345 | V>L | No |
ClinGen TOPMed |
|
|
rs1342084779 CA348317533 |
346 | S>N | No |
ClinGen gnomAD |
|
|
CA348317578 rs1573810748 |
349 | D>E | No |
ClinGen Ensembl |
|
|
rs748482498 CA1840844 |
353 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348317622 COSM1005705 rs1354347258 |
353 | R>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA348317620 rs1354347258 |
353 | R>K | No |
ClinGen TOPMed |
|
|
rs1451591225 CA348317629 |
354 | T>A | No |
ClinGen TOPMed |
|
|
CA348317636 rs1240752834 |
354 | T>K | No |
ClinGen gnomAD |
|
|
rs770047712 CA1840845 |
355 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1840847 rs763423973 |
356 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA1840848 rs771606644 |
356 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459978753 CA348317666 |
357 | L>F | No |
ClinGen gnomAD |
|
|
rs202027283 CA53751349 |
360 | L>I | No |
ClinGen Ensembl |
|
| TCGA novel | 363 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 364 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA53751477 rs937665707 |
371 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA53751518 rs113235957 |
374 | I>L | No |
ClinGen TOPMed |
|
|
rs113235957 CA53751483 |
374 | I>V | No |
ClinGen TOPMed |
|
|
rs1157104864 CA348317836 |
379 | E>K | No |
ClinGen gnomAD |
|
|
rs1573811607 CA348317886 |
385 | T>K | No |
ClinGen Ensembl |
|
|
CA53751523 rs939802143 |
386 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA348317928 rs1417030969 |
391 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 392 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348317943 rs1553446679 |
393 | V>L | No |
ClinGen Ensembl |
|
|
rs1164874199 CA348317956 |
395 | T>P | No |
ClinGen TOPMed |
No associated diseases with Q8IUF1
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
2 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLPAVGSADE | EEDPAEEDCP | ELVPMETTQS | EEEEKSGLGA | KIPVTIITGY | LGAGKTTLLN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YILTEQHSKR | VAVILNEFGE | GSALEKSLAV | SQGGELYEEW | LELRNGCLCC | SVKDNGLRAI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ENLMQKKGKF | DYILLETTGL | ADPGAVASMF | WVDAELGSDI | YLDGIITIVD | SKYGLKHLAE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EKPDGLINEA | TRQVALADAI | LINKTDLVPE | EDVKKLRATI | RSINGLGQIL | ETQRSRVDLS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NVLDLHAFDS | LSGISLQKKL | QHVPGTQPHL | DQSIVTITFE | VPGNAKEEHL | NMFIQNLLWE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KNVRNKDNHC | MEVIRLKGLV | SIKDKSQQVI | VQGVHELYDL | EETPVSWKDD | TERTNRLVLL |
| 370 | 380 | 390 | |||
| GRNLDKDILK | QLFIATVTET | EKQWTTHFKE | DQVCT |