Q96GY0
Gene name |
ZC2HC1A (C8orf70, FAM164A, CGI-62) |
Protein name |
Zinc finger C2HC domain-containing protein 1A |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51101 |
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 Q96GY0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96GY0-F1 | Predicted | AlphaFoldDB |
278 variants for Q96GY0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs898680595 CA180189459 |
2 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1433340531 CA371560559 |
2 | E>Q | No |
ClinGen TOPMed |
|
|
rs764372475 CA371560568 |
3 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764372475 CA4788895 |
3 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139794142 CA4788896 |
4 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1471149029 CA371560579 |
5 | E>D | No |
ClinGen gnomAD |
|
|
rs1010212735 CA371560574 |
5 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1010212735 CA180189460 |
5 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs901730759 CA371560803 CA180190518 |
6 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs762292847 CA4788897 |
6 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs939813919 CA180190520 |
7 | N>S | No |
ClinGen Ensembl |
|
|
CA180190519 rs997451545 |
7 | N>Y | No |
ClinGen TOPMed |
|
|
rs763567351 CA4788919 |
8 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA371560832 rs1427392614 |
9 | G>D | No |
ClinGen gnomAD |
|
|
rs1212893275 CA371560837 |
10 | V>I | No |
ClinGen gnomAD |
|
|
CA4788921 rs370653445 |
12 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200718109 CA180190521 |
13 | V>A | No |
ClinGen 1000Genomes |
|
| TCGA novel | 15 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1477363243 CA371560891 |
15 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA371560912 rs1194178239 |
16 | L>F | No |
ClinGen gnomAD |
|
|
CA371560906 rs1392015528 |
16 | L>S | No |
ClinGen TOPMed |
|
|
CA371560918 rs1477099319 |
17 | L>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 18 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA180190522 rs1036921787 |
18 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 18 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 20 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4788923 rs767612703 |
20 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4788924 rs753007013 |
23 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA371560990 rs1437169014 |
23 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4788925 rs755827437 |
25 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4788927 rs753704751 |
28 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753704751 CA4788928 |
28 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273770277 CA371561062 |
29 | V>E | No |
ClinGen gnomAD |
|
|
CA371561068 rs1347963459 |
30 | A>T | No |
ClinGen gnomAD |
|
|
TCGA novel rs1420259001 CA371561211 |
33 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
rs779628800 CA4788949 |
33 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 35 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371561252 rs1410306123 |
39 | Q>R | No |
ClinGen TOPMed |
|
|
CA4788954 rs771464722 |
43 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs538818172 CA4788956 |
43 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4788955 rs771464722 |
43 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA4788957 rs771991442 |
44 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 45 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201638521 CA180190820 |
46 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201638521 CA4788959 |
46 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143922654 CA4788958 |
46 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA371561299 rs1309042394 |
47 | K>R | No |
ClinGen gnomAD |
|
|
rs151313589 CA371561316 |
49 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA371561322 rs1268027183 |
50 | D>G | No |
ClinGen gnomAD |
|
|
rs1274078756 CA371561318 |
50 | D>N | No |
ClinGen gnomAD |
|
|
rs776875828 CA4788961 |
53 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA371561365 rs1205736267 |
56 | A>G | No |
ClinGen TOPMed |
|
|
rs1257552994 CA371561361 |
56 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 56 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371561391 rs1202733283 |
60 | D>G | No |
ClinGen gnomAD |
|
|
rs761554974 CA4788962 |
61 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4788964 rs750302785 |
62 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA371561402 rs1254602963 |
62 | P>S | No |
ClinGen gnomAD |
|
|
CA4788965 rs758360240 |
63 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA4788966 rs139362657 |
66 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs751067311 CA4788968 |
67 | L>I | No |
ClinGen ExAC |
|
|
rs780961934 CA4788971 |
68 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 68 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372195442 CA4788972 |
69 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371561445 rs372195442 |
69 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371561449 rs1412338111 |
70 | R>K | No |
ClinGen gnomAD |
|
|
rs759047775 CA4788998 |
71 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA371559883 rs759047775 |
71 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA371559894 rs1409614805 |
72 | E>D | No |
ClinGen TOPMed |
|
|
rs1349424260 CA371559897 |
73 | P>A | No |
ClinGen TOPMed |
|
|
CA371559903 rs1216524801 |
74 | P>A | No |
ClinGen gnomAD |
|
|
CA4788999 rs767161730 |
74 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs752341988 CA4789000 |
76 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs777639391 CA4789002 |
77 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4789001 rs755837884 |
77 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA371559951 rs1241182299 |
81 | R>K | No |
ClinGen gnomAD |
|
|
CA180191724 rs907607851 |
82 | R>G | No |
ClinGen gnomAD |
|
|
CA4789003 rs750774583 |
82 | R>T | No |
ClinGen ExAC |
|
| TCGA novel | 85 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs970757635 CA180191725 |
86 | E>Q | No |
ClinGen TOPMed |
|
|
rs1431370389 CA371559994 |
87 | F>L | No |
ClinGen TOPMed |
|
|
rs1235994926 CA371560004 |
88 | I>T | No |
ClinGen gnomAD |
|
|
rs780566556 CA4789005 |
89 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs747490567 CA4789006 |
90 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1472138074 CA371560018 |
91 | I>V | No |
ClinGen TOPMed |
|
|
CA180191726 rs1040233560 |
92 | R>K | No |
ClinGen Ensembl |
|
|
rs150032736 CA4789007 |
94 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781253947 CA4789008 |
96 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438650947 CA371560062 |
98 | D>N | No |
ClinGen TOPMed |
|
|
CA371560068 rs1178359896 |
99 | Q>E | No |
ClinGen Ensembl |
|
| TCGA novel | 99 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 100 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371560099 rs1198827290 |
103 | E>G | No |
ClinGen TOPMed |
|
|
rs1433232139 CA371560105 |
104 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1433232139 CA371560104 |
104 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA371560120 rs1370358952 |
106 | K>R | No |
ClinGen gnomAD |
|
|
CA371560119 rs1370358952 COSM3835046 |
106 | K>T | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA4789015 rs770664830 |
109 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4789016 rs774298819 |
110 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1050746454 CA180191727 |
110 | P>S | No |
ClinGen Ensembl |
|
|
rs1290638849 CA371560152 |
112 | P>A | No |
ClinGen TOPMed |
|
|
rs893160696 CA180191728 |
112 | P>L | No |
ClinGen gnomAD |
|
|
rs879262449 CA180191729 |
113 | P>L | No |
ClinGen Ensembl |
|
|
CA4789018 rs767072106 |
113 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4789020 rs145287590 |
117 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA371560202 rs1167369115 |
118 | D>G | No |
ClinGen gnomAD |
|
|
rs753236294 CA4789047 |
121 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4789049 rs777730540 |
122 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs749463362 CA4789050 |
123 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4789052 rs779257641 |
126 | Q>K | No |
ClinGen ExAC |
|
|
CA371560283 rs1434157046 |
129 | F>L | No |
ClinGen gnomAD |
|
|
rs142420326 CA4789053 |
130 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 131 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1233582921 CA371560314 |
134 | A>T | No |
ClinGen gnomAD |
|
|
rs146492124 CA4789054 |
135 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371560327 rs1336884582 |
136 | R>G | No |
ClinGen gnomAD |
|
|
rs775516268 CA4789055 |
138 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA371560351 rs1208603793 |
139 | N>T | No |
ClinGen gnomAD |
|
|
CA371560382 rs1485869868 |
143 | E>Q | No |
ClinGen gnomAD |
|
|
CA371560390 rs1428005701 |
144 | Q>* | No |
ClinGen gnomAD |
|
|
rs768143827 CA4789057 |
145 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1475136497 CA371560408 |
147 | R>C | No |
ClinGen gnomAD |
|
|
rs761443209 CA4789059 |
147 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA4789060 rs147883140 |
148 | I>L | No |
ClinGen ESP ExAC TOPMed |
|
|
rs772891311 CA4789061 |
149 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs141497872 CA4789062 |
149 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs17850447 VAR_031102 CA180192029 |
156 | T>A | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs146184464 CA4789064 |
156 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1416936620 CA371560481 |
158 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4789066 rs764732047 |
158 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764732047 CA371560483 |
158 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324270053 CA371560495 |
160 | G>R | No |
ClinGen gnomAD |
|
|
rs200110247 CA4789068 |
163 | T>I | No |
ClinGen ExAC TOPMed |
|
|
CA4789067 rs148270750 |
163 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4789070 rs200872378 |
165 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373208347 CA4789069 |
165 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs574401853 CA180192030 CA4789073 |
168 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1024344667 CA180192899 COSM3721707 |
169 | Y>C | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA4789090 rs150344275 |
171 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4789092 rs751288773 |
172 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA371560617 rs1390338258 |
172 | P>S | No |
ClinGen gnomAD |
|
|
rs138000597 CA4789094 |
173 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138000597 CA4789095 COSM196945 |
173 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1304707439 CA371560625 |
174 | L>F | No |
ClinGen gnomAD |
|
|
rs368633779 CA4789097 |
174 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1262738102 CA371560639 |
176 | K>Q | No |
ClinGen gnomAD |
|
|
rs930890359 CA180192900 |
177 | S>P | No |
ClinGen TOPMed |
|
|
CA180192901 rs776838149 |
178 | N>D | No |
ClinGen Ensembl |
|
|
rs760921799 CA4789101 |
179 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs200096220 CA4789100 |
179 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3779372 CA4789102 rs769083996 |
180 | P>A | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA371560664 rs1366664604 |
180 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA371560662 rs769083996 |
180 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371560668 rs1194602345 |
181 | G>* | No |
ClinGen gnomAD |
|
|
rs1250351364 CA371560671 |
181 | G>V | No |
ClinGen gnomAD |
|
|
rs776941860 CA4789103 |
182 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs936698882 CA180192902 |
183 | A>S | No |
ClinGen gnomAD |
|
|
rs1416099361 CA371560681 |
183 | A>V | No |
ClinGen gnomAD |
|
|
CA371560704 rs1163740902 |
187 | S>C | No |
ClinGen gnomAD |
|
|
rs1563632409 CA371560700 |
187 | S>T | No |
ClinGen Ensembl |
|
|
CA371560711 rs1277775364 |
188 | S>L | No |
ClinGen TOPMed |
|
|
CA4789105 rs371962432 |
189 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4789106 rs765908988 |
191 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs765908988 CA371560726 |
191 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA371560745 rs1391875317 |
194 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs914163193 CA180192904 |
195 | G>V | No |
ClinGen Ensembl |
|
|
rs201671046 CA180192905 |
196 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201671046 CA4789110 |
196 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201671046 CA4789109 |
196 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA180192906 rs944859318 |
196 | A>V | No |
ClinGen TOPMed |
|
|
rs867047499 CA180192907 |
197 | G>D | No |
ClinGen Ensembl |
|
|
rs761256249 CA4789111 |
199 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA4789112 rs781044570 |
200 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447050682 CA371560784 |
201 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 202 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371560821 rs1458103060 |
202 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4789131 rs752530643 |
205 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA4789132 rs755939375 |
207 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4789133 rs755939375 |
207 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA371560893 rs1301908806 |
208 | V>M | No |
ClinGen gnomAD |
|
|
rs1370971115 CA371560919 |
209 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs142471753 CA4789134 |
210 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1308829728 CA371560944 |
211 | S>N | No |
ClinGen TOPMed |
|
|
rs1387170954 CA371561024 |
216 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4789135 rs372896908 |
216 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1259715402 CA371561071 |
219 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4789136 rs778502446 |
221 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371561101 rs778502446 |
221 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1054283 CA371561108 |
222 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779614896 CA4789139 |
223 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4789140 rs748502580 |
224 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA180193012 rs893618094 |
228 | G>R | No |
ClinGen Ensembl |
|
|
CA4789141 rs770305802 |
229 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs773815079 CA4789142 |
231 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA180193013 rs917551483 |
231 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1345959075 CA371561167 |
232 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 233 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4789144 rs375835069 |
234 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371561176 rs375835069 |
234 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4789145 rs376000246 |
234 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs946923379 CA180194657 |
237 | N>I | No |
ClinGen TOPMed |
|
|
rs375752713 CA4789168 |
238 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA371561488 rs1454058399 |
239 | K>I | No |
ClinGen TOPMed |
|
|
rs370156121 CA180194658 |
240 | P>H | No |
ClinGen ESP gnomAD |
|
|
rs923645398 CA180194659 |
241 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs775645554 CA4789170 |
241 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA371561499 rs1298279505 |
242 | N>H | No |
ClinGen gnomAD |
|
|
rs374049698 CA371561506 |
242 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1430207737 CA371561507 |
243 | S>P | No |
ClinGen Ensembl |
|
|
CA180194660 rs111436520 |
244 | T>A | No |
ClinGen Ensembl |
|
|
CA180194661 rs905468861 |
244 | T>I | No |
ClinGen TOPMed |
|
|
CA4789173 rs776409753 |
246 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1231959724 CA371561524 |
246 | P>S | No |
ClinGen gnomAD |
|
|
CA4789174 rs761638942 |
247 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1202415415 CA371561535 |
248 | L>M | No |
ClinGen gnomAD |
|
|
CA180194662 rs139814140 |
252 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4789175 rs139814140 |
252 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs947886407 CA180194664 |
253 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 254 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750351449 CA4789176 |
254 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868658527 CA180194665 |
259 | N>K | No |
ClinGen Ensembl |
|
|
CA371561611 rs1229054678 |
260 | K>R | No |
ClinGen TOPMed |
|
|
CA180194667 rs746542150 |
261 | R>K | No |
ClinGen Ensembl |
|
|
CA180194669 rs1045115178 |
262 | K>E | No |
ClinGen Ensembl |
|
|
CA180194670 rs909283706 |
263 | T>I | No |
ClinGen Ensembl |
|
|
CA4789178 rs765810424 |
264 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1016980682 CA180194671 |
265 | T>A | No |
ClinGen TOPMed |
|
|
CA371561645 rs1193555438 |
265 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA371561653 rs1328461209 |
266 | E>D | No |
ClinGen TOPMed |
|
|
rs1378579132 CA371561654 |
267 | S>R | No |
ClinGen gnomAD |
|
|
rs1479176834 CA371561679 |
270 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 271 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA371561704 rs1213632198 |
272 | P>S | No |
ClinGen gnomAD |
|
|
rs1213632198 CA371561702 |
272 | P>T | No |
ClinGen gnomAD |
|
|
rs776890062 CA371561709 |
273 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761621155 CA4789191 |
273 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4789190 rs776890062 |
273 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA371561714 rs1408593430 |
274 | G>R | No |
ClinGen TOPMed |
|
|
CA371561722 rs1180155040 |
275 | D>Y | No |
ClinGen gnomAD |
|
|
rs1363559314 CA371561729 |
276 | C>R | No |
ClinGen gnomAD |
|
|
rs77219198 CA371561752 |
279 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4789195 rs77219198 |
279 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751109108 CA4789196 |
280 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs751109108 CA4789197 |
280 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs767253867 CA4789198 |
281 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA371561767 rs1400971480 |
282 | G>D | No |
ClinGen TOPMed |
|
|
rs1391416856 CA371561766 |
282 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4789199 rs752417374 |
285 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA371561788 rs1170447225 |
285 | I>M | No |
ClinGen TOPMed |
|
|
CA4789200 rs757598027 |
285 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs779146262 CA4789201 |
286 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4789202 rs750862330 |
288 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA371561818 rs1429447371 |
290 | G>R | No |
ClinGen TOPMed |
|
|
rs1054251539 CA180194899 |
291 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs375522431 CA4789203 |
292 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1234562122 CA371561836 |
293 | P>S | No |
ClinGen TOPMed |
|
|
CA371561865 rs1489781720 |
297 | P>R | No |
ClinGen gnomAD |
|
|
CA371561863 rs1266075647 |
297 | P>T | No |
ClinGen gnomAD |
|
|
CA371561896 rs1441638843 |
301 | H>L | No |
ClinGen TOPMed |
|
|
rs780581410 CA371561941 COSM3835047 |
307 | Y>* | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1276766704 CA371561955 |
310 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1202460819 CA371561982 |
313 | K>R | No |
ClinGen TOPMed |
|
|
CA4789207 rs781353383 |
314 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 315 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4789208 rs748322481 |
316 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs748322481 CA371562004 |
316 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs769574487 CA4789209 |
317 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 317 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 317 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4789210 rs772869260 |
318 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4789212 rs770959996 |
321 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4789213 rs148584360 |
321 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4789214 rs759065173 |
322 | R>K | No |
ClinGen ExAC |
|
| TCGA novel | 323 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4789215 rs767163652 |
324 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1563642714 CA371562062 |
325 | L>P | No |
ClinGen Ensembl |
|
|
CA4789218 rs763877690 |
326 | L>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760234371 CA4789217 |
326 | L>R | No |
ClinGen ExAC gnomAD |
No associated diseases with Q96GY0
No regional properties for Q96GY0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q96GY0 | |||
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| metal ion binding | Binding to a metal ion. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEGLEENGGV | VQVGELLPCK | ICGRTFFPVA | LKKHGPICQK | TATKKRKTFD | SSRQRAEGTD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IPTVKPLKPR | PEPPKKPSNW | RRKHEEFIAT | IRAAKGLDQA | LKEGGKLPPP | PPPSYDPDYI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QCPYCQRRFN | ENAADRHINF | CKEQAARISN | KGKFSTDTKG | KPTSRTQVYK | PPALKKSNSP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GTASSGSSRL | PQPSGAGKTV | VGVPSGKVSS | SSSSLGNKLQ | TLSPSHKGIA | APHAGANVKP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RNSTPPSLAR | NPAPGVLTNK | RKTYTESYIA | RPDGDCASSL | NGGNIKGIEG | HSPGNLPKFC |
| 310 | 320 | ||||
| HECGTKYPVE | WAKFCCECGI | RRMIL |