Q8IVD9
Gene name |
NUDCD3 (KIAA1068) |
Protein name |
NudC domain-containing protein 3 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23386 |
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 Q8IVD9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1WGV | NMR | - | A | 176-286 | PDB |
| AF-Q8IVD9-F1 | Predicted | AlphaFoldDB |
294 variants for Q8IVD9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs307007 CA157930553 |
3 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762179144 CA4241320 |
3 | T>K | No |
ClinGen ExAC gnomAD |
|
|
VAR_054036 rs307007 CA4241321 |
3 | T>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1382050170 CA367387328 |
4 | G>E | No |
ClinGen gnomAD |
|
|
CA4241318 rs146329778 |
5 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373059594 CA4241317 |
5 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367387287 rs1183887921 |
6 | A>V | No |
ClinGen gnomAD |
|
|
rs775686676 CA4241316 |
7 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377401450 CA157930509 |
9 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1284564258 CA367387163 |
10 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4241314 rs745919662 |
11 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373111430 CA4241312 |
13 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4241313 rs373111430 |
13 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4241310 rs777702916 |
14 | L>F | No |
ClinGen ExAC |
|
|
rs189900651 CA4241311 |
14 | L>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367387003 rs1376432982 |
15 | G>C | No |
ClinGen gnomAD |
|
| TCGA novel | 17 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367386921 rs1292480325 |
18 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA367386927 rs1281001032 |
18 | Q>R | No |
ClinGen TOPMed |
|
|
CA367386900 rs1350507784 |
19 | H>Y | No |
ClinGen gnomAD |
|
|
CA367386872 rs1362197797 |
20 | V>L | No |
ClinGen gnomAD |
|
|
CA157930476 rs866447926 |
21 | G>V | No |
ClinGen Ensembl |
|
|
rs755869101 CA4241309 |
22 | N>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 24 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4241308 rs752317758 |
24 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1228510022 CA367386703 |
25 | D>N | No |
ClinGen TOPMed |
|
|
rs1422291283 CA367386623 |
28 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs201423294 CA4241306 |
29 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751027167 CA4241305 |
30 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs1406792885 CA367386580 |
31 | F>L | No |
ClinGen gnomAD |
|
|
rs1406792885 CA367386577 |
31 | F>V | No |
ClinGen gnomAD |
|
|
CA4241303 rs369984670 |
32 | G>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4241300 rs373365864 |
35 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA367386441 rs1473039389 |
36 | R>C | No |
ClinGen TOPMed |
|
|
rs1292351262 CA367386435 |
36 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs569119981 CA4241299 |
37 | K>R | Variant assessed as Somatic; 4.833e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs772265765 CA4241298 |
38 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs759547552 CA4241297 |
39 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 39 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4241296 rs774559000 |
40 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA157930407 rs1022962801 |
41 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1406592584 CA367386212 |
44 | L>P | No |
ClinGen TOPMed |
|
|
rs1393787690 CA367386193 |
45 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs749204458 CA367386157 CA4241294 |
46 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs747911756 CA4241291 |
48 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4241292 rs769744697 |
48 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs369942216 CA367386122 |
49 | D>H | No |
ClinGen ESP TOPMed |
|
|
rs369942216 CA157930364 |
49 | D>N | No |
ClinGen ESP TOPMed |
|
|
CA157930356 rs867641636 |
50 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs867641636 CA367386073 |
50 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs780721403 CA4241290 |
51 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367386054 rs1189963072 |
51 | M>T | No |
ClinGen gnomAD |
|
|
rs940942736 CA157930340 |
52 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1198952792 CA367385963 |
55 | P>A | No |
ClinGen gnomAD |
|
|
CA4241286 rs757812999 |
56 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA367385941 rs779511167 |
56 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779511167 CA4241287 |
56 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483554719 CA367385903 |
58 | A>V | No |
ClinGen TOPMed |
|
|
rs1303368925 CA367385898 |
59 | Q>E | No |
ClinGen gnomAD |
|
|
CA4241284 rs764541873 |
60 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA157930252 rs962756833 |
61 | L>M | No |
ClinGen TOPMed |
|
|
CA367385855 rs1016986453 |
63 | L>M | No |
ClinGen TOPMed |
|
|
CA4241271 rs367883334 |
65 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA367383913 rs1563192046 |
66 | F>L | No |
ClinGen Ensembl |
|
|
CA367383902 rs1326365217 |
67 | K>E | No |
ClinGen TOPMed |
|
|
CA367383890 rs1585111952 |
67 | K>N | No |
ClinGen Ensembl |
|
|
rs1396338586 CA367383876 |
68 | T>S | No |
ClinGen TOPMed |
|
|
rs779631530 CA4241270 |
69 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4241269 rs757931682 |
72 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757931682 CA367383765 |
72 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367383731 rs1442578250 |
73 | A>T | No |
ClinGen gnomAD |
|
|
CA4241267 rs371421304 |
74 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756631027 CA4241266 |
74 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367383587 rs1285843881 |
77 | D>A | No |
ClinGen TOPMed |
|
|
rs1286710003 CA367383561 |
78 | E>K | No |
ClinGen gnomAD |
|
|
CA367383398 rs1348718803 |
83 | E>D | No |
ClinGen gnomAD |
|
|
rs1234394576 CA367383416 |
83 | E>K | No |
ClinGen TOPMed |
|
|
CA4241264 rs767890675 |
84 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs550366011 CA4241263 |
85 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1354664266 CA367383276 |
89 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 89 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1209514130 CA367383225 |
91 | K>R | No |
ClinGen TOPMed |
|
|
rs372229653 CA4241262 |
93 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200684595 CA4241260 |
94 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1053400213 CA157925855 |
95 | E>G | No |
ClinGen TOPMed |
|
|
CA4241259 rs773412531 |
95 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs200164721 CA4241257 |
99 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367383030 rs1370015757 |
101 | A>T | No |
ClinGen TOPMed |
|
|
rs768521852 CA4241255 |
103 | A>T | No |
ClinGen ExAC |
|
|
rs1456191796 CA367382981 |
104 | A>P | No |
ClinGen TOPMed |
|
|
rs1369785350 CA367382937 |
107 | E>Q | No |
ClinGen gnomAD |
|
|
CA4241254 rs746764203 |
107 | E>V | No |
ClinGen ExAC |
|
|
rs775125688 CA4241253 |
109 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA367382886 rs1263626812 |
111 | V>F | No |
ClinGen gnomAD |
|
|
CA4241252 rs771651439 |
112 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1392703993 CA367382867 |
113 | V>G | No |
ClinGen TOPMed |
|
|
CA367382829 rs745436649 |
115 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 115 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4241250 rs778481864 |
116 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 117 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs189139007 CA157925802 |
118 | I>V | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1210467586 CA367382762 |
119 | D>N | No |
ClinGen gnomAD |
|
|
rs1044009496 CA157925801 |
120 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs370945060 CA4241248 |
121 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA367382686 rs1232869672 |
122 | T>R | No |
ClinGen gnomAD |
|
|
rs61745062 CA4241247 |
123 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201221635 CA4241246 |
123 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766766388 CA4241244 |
125 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA367382607 rs1252196252 |
126 | G>E | No |
ClinGen TOPMed |
|
|
CA367382614 rs1405491166 |
126 | G>R | No |
ClinGen gnomAD |
|
|
CA367382610 rs1405491166 |
126 | G>W | No |
ClinGen gnomAD |
|
|
rs758689871 CA4241243 |
128 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA367382519 rs1162432009 |
129 | E>G | No |
ClinGen gnomAD |
|
|
CA157925716 rs988368420 |
130 | V>G | No |
ClinGen TOPMed |
|
|
rs368303594 CA4241241 |
130 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs761752415 CA4241240 |
131 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs944855380 CA157925715 |
131 | E>V | No |
ClinGen TOPMed |
|
|
rs776659627 CA4241239 |
133 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs1474406211 CA367382415 |
133 | V>M | No |
ClinGen gnomAD |
|
|
CA4241238 CA157925672 rs115164631 |
134 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370549116 CA4241236 |
136 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367382262 rs1585111641 |
139 | V>M | No |
ClinGen Ensembl |
|
|
rs745487952 CA4241234 |
142 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA4241232 rs770495408 |
143 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4241233 rs770495408 |
143 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4241231 rs748681908 |
144 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1206108894 CA367382144 |
144 | H>Y | No |
ClinGen gnomAD |
|
|
rs953619201 CA157925602 |
145 | G>S | No |
ClinGen TOPMed |
|
|
rs1275999400 CA367382060 |
146 | S>L | No |
ClinGen gnomAD |
|
|
rs138070211 CA367382034 |
147 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA157925578 rs199516211 |
148 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA157925568 rs543622747 |
149 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA4241226 rs758746958 |
151 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA367381885 rs1585111583 |
152 | P>L | No |
ClinGen Ensembl |
|
|
rs369865643 CA157925552 |
154 | A>E | No |
ClinGen Ensembl |
|
|
CA367381866 rs1418492484 |
154 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1369447454 CA367381845 |
155 | V>I | No |
ClinGen TOPMed |
|
|
rs778965814 CA4241224 |
156 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4241223 rs757360285 |
158 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4241221 rs764146504 |
159 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs753799747 CA4241222 |
159 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA367381712 rs764146504 |
159 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA367381673 rs1437679039 |
160 | E>D | No |
ClinGen gnomAD |
|
|
CA157925528 rs1014822130 |
160 | E>K | No |
ClinGen TOPMed |
|
|
COSM1259693 CA157925523 rs1014822130 |
160 | E>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1585111535 CA367381671 |
161 | V>I | No |
ClinGen Ensembl |
|
|
CA4241219 rs752529149 |
162 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs767277652 CA4241218 |
163 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 163 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367381566 rs1300668656 |
165 | P>Q | No |
ClinGen gnomAD |
|
|
rs1232870515 CA367381548 |
166 | P>A | No |
ClinGen gnomAD |
|
|
rs34435177 CA367381520 |
167 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774082717 CA4241216 |
167 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA4241217 rs34435177 |
167 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA367381488 COSM232919 rs1439567139 |
168 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA367381491 rs1439567139 |
168 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4241215 rs770435609 |
169 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1436537216 CA367381432 |
170 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs998198277 CA157943571 |
170 | R>S | No |
ClinGen TOPMed |
|
|
CA157943566 rs777794280 |
175 | F>L | No |
ClinGen Ensembl |
|
|
CA367555703 rs1410497638 |
179 | P>L | No |
ClinGen gnomAD |
|
|
rs757750498 CA4241066 |
180 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA367555693 rs1242290336 |
181 | S>G | No |
ClinGen TOPMed |
|
|
CA367555691 rs1482818500 |
181 | S>T | No |
ClinGen Ensembl |
|
|
rs1428973141 CA367555675 |
183 | N>S | No |
ClinGen TOPMed |
|
|
rs749820004 CA4241065 |
187 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs778099333 CA4241064 |
187 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs756504391 CA4241063 |
189 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA367555607 rs1208761561 |
193 | S>L | No |
ClinGen gnomAD |
|
|
rs1316967733 CA367555585 |
196 | Y>C | No |
ClinGen gnomAD |
|
|
CA4241061 rs375774867 |
199 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367555556 rs1461446041 |
201 | V>I | No |
ClinGen TOPMed |
|
|
rs766588627 CA4241058 CA4241059 |
202 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs762903299 CA4241057 |
203 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1353432621 CA367555521 |
207 | K>E | No |
ClinGen gnomAD |
|
|
rs1431626602 CA367555505 |
209 | V>M | No |
ClinGen gnomAD |
|
|
rs888320964 CA157943535 |
210 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA367555498 rs888320964 |
210 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA4241055 rs201734344 |
211 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 213 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1015376214 CA157935176 |
223 | S>A | No |
ClinGen TOPMed |
|
|
CA4241028 rs770372752 |
223 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748688442 COSM1089939 CA4241027 |
225 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4241026 rs201065672 |
225 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201065672 CA367555191 |
225 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1299057325 CA367555190 |
226 | V>M | No |
ClinGen gnomAD |
|
|
CA4241025 rs769148630 |
227 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA367555167 rs1168473840 |
229 | L>P | No |
ClinGen gnomAD |
|
|
rs747321112 CA4241024 |
230 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs140515906 CA4241023 |
232 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758548123 CA4241022 |
232 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750560463 CA4241021 |
233 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs11550029 VAR_031709 CA4241019 |
235 | R>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4241018 rs142257577 |
235 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA157935131 rs201003414 |
236 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201003414 CA4241016 |
236 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367555121 rs1282475970 |
237 | L>F | No |
ClinGen gnomAD |
|
|
rs1307946950 CA367555113 |
238 | M>T | No |
ClinGen gnomAD |
|
|
rs913303955 CA157935110 |
243 | T>A | No |
ClinGen Ensembl |
|
|
CA4241013 rs765176728 |
244 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1464251698 CA367555068 |
245 | K>Q | No |
ClinGen gnomAD |
|
|
CA4241012 rs372479007 |
245 | K>R | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 245 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1376765908 CA367555052 |
247 | N>Y | No |
ClinGen gnomAD |
|
|
rs765838784 CA4241011 |
248 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA367555037 rs1420725699 |
249 | E>G | No |
ClinGen gnomAD |
|
|
CA367555032 rs762486546 |
250 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs762486546 CA4241010 |
250 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA157935079 rs947619595 |
251 | S>F | No |
ClinGen TOPMed |
|
|
CA367555025 rs1169860233 |
251 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 251 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777292008 CA4241009 |
252 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA157935070 rs938783296 |
254 | S>G | No |
ClinGen TOPMed |
|
|
rs55683944 CA157935061 |
256 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA157935058 rs55683944 |
256 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1261601495 CA367554986 |
257 | P>H | No |
ClinGen gnomAD |
|
|
CA4241006 rs759531529 |
257 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1450914 rs969997957 CA157935042 |
258 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1187633701 CA367554974 |
259 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs779151517 CA4241003 |
260 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs749305682 CA4241001 |
261 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA367554120 rs1280042105 |
264 | N>D | No |
ClinGen TOPMed |
|
|
rs1338285106 CA367554104 |
266 | S>T | No |
ClinGen TOPMed |
|
|
CA157927833 rs751357483 |
268 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4240975 rs751357483 |
268 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145712203 CA4240972 |
270 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA |
|
rs1585049869 CA367554059 |
272 | W>C | No |
ClinGen Ensembl |
|
| TCGA novel | 273 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4240971 rs764865453 |
274 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs562538702 CA4240970 |
274 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA367554041 rs1174300328 |
275 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1416217621 CA367554035 |
276 | I>F | No |
ClinGen gnomAD |
|
|
rs140073158 CA4240968 |
278 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4240967 rs759872496 |
281 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265976276 CA367553996 |
282 | P>A | No |
ClinGen TOPMed |
|
|
rs970049066 CA157927781 |
282 | P>L | No |
ClinGen TOPMed |
|
|
CA367553991 rs1377763783 |
283 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4240964 rs763137837 |
284 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA157927767 rs771366456 |
285 | I>V | No |
ClinGen Ensembl |
|
|
CA157927756 rs899192050 |
287 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA157927763 rs899192050 |
287 | K>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 288 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA367553951 rs1211041965 |
288 | I>M | No |
ClinGen gnomAD |
|
|
rs1483107869 CA367553945 |
289 | N>S | No |
ClinGen gnomAD |
|
|
rs879667846 CA157927747 |
290 | K>R | No |
ClinGen TOPMed |
|
|
rs1420112449 CA367553933 |
291 | E>Q | No |
ClinGen TOPMed |
|
|
rs773373200 CA4240961 |
292 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1218266712 CA367553925 |
292 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA157927740 rs369527166 |
293 | S>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA157927734 rs1011981796 |
294 | M>V | No |
ClinGen TOPMed |
|
|
CA157927727 rs147519520 |
297 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs149687229 CA4240960 |
298 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369206508 CA4240958 |
303 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA157927701 rs79020500 |
304 | V>G | No |
ClinGen Ensembl |
|
|
CA157927703 rs1051636815 |
304 | V>M | No |
ClinGen Ensembl |
|
|
rs1333761690 CA367553829 |
307 | R>G | No |
ClinGen gnomAD |
|
|
CA4240955 rs779976154 |
308 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758222272 CA4240954 |
311 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1472451165 CA367553792 |
312 | Y>S | No |
ClinGen gnomAD |
|
|
CA367553785 rs1585049725 |
313 | H>P | No |
ClinGen Ensembl |
|
|
CA4240952 rs778637751 |
313 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA367553769 rs1268652474 |
315 | K>R | No |
ClinGen TOPMed |
|
|
rs921895254 CA157927664 |
317 | Q>E | No |
ClinGen Ensembl |
|
|
rs753372746 CA4240950 |
317 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs767972859 CA4240949 |
318 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs201551368 CA4240947 |
320 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766813840 CA4240926 |
328 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA367553617 rs1554486232 |
328 | H>R | No |
ClinGen Ensembl |
|
| TCGA novel | 329 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371599060 CA4240925 |
330 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA367553605 rs1178495334 |
330 | M>V | No |
ClinGen TOPMed |
|
|
rs1295602374 CA367553574 |
334 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs765419349 CA4240923 |
338 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA367553540 rs1349846297 |
338 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA367553539 rs1349846297 |
338 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4240921 rs776671458 |
343 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1410648930 CA367553485 |
343 | R>Q | No |
ClinGen gnomAD |
|
|
CA4240920 rs139501693 |
346 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA367553434 rs1585045990 |
348 | D>A | No |
ClinGen Ensembl |
|
|
COSM189000 rs760773518 CA4240919 |
348 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4240917 rs772118837 |
351 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs775577561 CA4240918 |
351 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745721645 CA4240916 |
352 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282495331 CA367553375 |
353 | N>S | No |
ClinGen TOPMed |
|
|
CA4240913 rs776014477 |
356 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770536144 CA4240914 |
356 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA367553310 rs777107422 |
357 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777107422 CA4240911 |
357 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs947164919 CA157922978 |
357 | G>W | No |
ClinGen gnomAD |
|
|
rs1367346736 CA367553308 |
358 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs750833397 CA4240907 |
359 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4240908 rs758871075 |
359 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA4240909 rs758871075 |
359 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4240906 rs201868328 |
360 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
No associated diseases with Q8IVD9
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. |
| cytoplasmic dynein complex | Any dynein complex with a homodimeric dynein heavy chain core that catalyzes movement along a microtubule. Cytoplasmic dynein complexes participate in many cytoplasmic transport activities in eukaryotes, such as mRNA localization, intermediate filament transport, nuclear envelope breakdown, apoptosis, transport of centrosomal proteins, mitotic spindle assembly, virus transport, kinetochore functions, and movement of signaling and spindle checkpoint proteins. Some complexes participate in intraflagellar transport. Subunits associated with the dynein heavy chain mediate association between dynein heavy chain and cargoes, and may include light chains and light intermediate chains. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| unfolded protein binding | Binding to an unfolded protein. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cilium assembly | The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. |
| protein folding | The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure. |
| protein localization to pericentriolar material | A process in which a protein is transported to, or maintained in, a location within a pericentriolar material. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8R1N4 | Nudcd3 | NudC domain-containing protein 3 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| METGAAELYD | QALLGILQHV | GNVQDFLRVL | FGFLYRKTDF | YRLLRHPSDR | MGFPPGAAQA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LVLQVFKTFD | HMARQDDEKR | RQELEEKIRR | KEEEEAKTVS | AAAAEKEPVP | VPVQEIEIDS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TTELDGHQEV | EKVQPPGPVK | EMAHGSQEAE | APGAVAGAAE | VPREPPILPR | IQEQFQKNPD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SYNGAVRENY | TWSQDYTDLE | VRVPVPKHVV | KGKQVSVALS | SSSIRVAMLE | ENGERVLMEG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KLTHKINTES | SLWSLEPGKC | VLVNLSKVGE | YWWNAILEGE | EPIDIDKINK | ERSMATVDEE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EQAVLDRLTF | DYHQKLQGKP | QSHELKVHEM | LKKGWDAEGS | PFRGQRFDPA | MFNISPGAVQ |
| F |