Q9UHR6
PR
Gene name |
ZNHIT2 (C11orf5) |
Protein name |
Zinc finger HIT domain-containing protein 2 |
Names |
Protein FON |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:741 |
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 Q9UHR6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1X4S | NMR | - | A | 1-46 | PDB |
| AF-Q9UHR6-F1 | Predicted | AlphaFoldDB |
431 variants for Q9UHR6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA6091602 rs772342359 |
2 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA223920697 rs974689311 |
2 | E>K | No |
ClinGen TOPMed |
|
|
CA381229951 rs974689311 |
2 | E>Q | No |
ClinGen TOPMed |
|
|
CA381229947 rs1429449179 |
2 | E>V | No |
ClinGen gnomAD |
|
|
rs748350558 CA6091601 |
3 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381229944 rs748350558 |
3 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368497961 CA223920693 |
5 | G>A | No |
ClinGen Ensembl |
|
|
rs1018854834 CA381229934 CA223920694 |
5 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs768653162 CA6091599 |
6 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381229894 rs1403268431 |
11 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs750880039 CA6091596 |
11 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6091595 rs750880039 |
11 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381229893 rs1403268431 |
11 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA381229884 CA381229885 rs1390867260 |
13 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs751223935 CA6091592 |
13 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA381229883 rs1390867260 |
13 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA381229878 rs1300410955 |
14 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA381229876 rs1554995344 |
14 | E>G | No |
ClinGen Ensembl |
|
|
CA381229879 rs1300410955 |
14 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 15 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762385797 CA6091589 |
19 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA381229821 rs1196249338 |
22 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
CA381229816 rs986051585 |
23 | P>H | No |
ClinGen gnomAD |
|
|
CA223920628 rs986051585 |
23 | P>L | No |
ClinGen gnomAD |
|
|
rs752185602 CA6091587 |
23 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs765154831 CA6091586 |
24 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA381229812 rs765154831 |
24 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA223920624 rs898506538 |
25 | C>F | No |
ClinGen TOPMed |
|
|
rs997645681 CA223920622 |
28 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs997645681 CA381229788 |
28 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA600224737 rs1259118873 |
29 | Y>* | No |
ClinGen gnomAD |
|
|
CA381229780 rs536417382 |
29 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs536417382 CA223920612 |
29 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA223920607 rs1015002004 |
30 | C>W | No |
ClinGen Ensembl |
|
|
rs1001542660 CA381229764 |
32 | L>V | No |
ClinGen TOPMed |
|
|
CA223920605 rs1005877509 |
34 | C>* | No |
ClinGen Ensembl |
|
|
rs906143209 CA381229739 |
35 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA381229737 rs1406445937 |
36 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1406445937 CA381229736 |
36 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA223920589 rs887452458 |
36 | R>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 37 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381229729 rs1565329370 |
37 | T>M | No |
ClinGen Ensembl |
|
|
CA381229732 rs1468165657 |
37 | T>S | No |
ClinGen gnomAD |
|
|
CA6091578 rs200891198 |
40 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA223920542 rs200891198 |
40 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6091579 rs200891198 |
40 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1241178867 CA381229698 |
42 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA381229684 rs1565329323 |
44 | N>K | No |
ClinGen Ensembl |
|
|
CA6091575 rs770261958 |
44 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA223920523 rs1002431275 |
45 | F>L | No |
ClinGen Ensembl |
|
|
CA381229682 rs1461601831 |
45 | F>L | No |
ClinGen gnomAD |
|
|
CA381229678 rs1264053328 |
45 | F>S | No |
ClinGen gnomAD |
|
|
rs1264053328 CA381229679 |
45 | F>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 46 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs192374348 CA6091573 |
48 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1348637973 CA381229661 |
48 | D>N | No |
ClinGen gnomAD |
|
|
rs562477796 CA223920497 |
50 | V>L | No |
ClinGen Ensembl |
|
|
rs1382749515 CA381229638 |
51 | L>Q | No |
ClinGen gnomAD |
|
|
rs747321316 CA6091570 |
52 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6091568 rs777297336 |
53 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs759985436 CA223920487 |
55 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA381229618 rs759985436 |
55 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs764786441 CA6091565 |
56 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs752207335 CA6091566 |
56 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs752207335 CA381229612 |
56 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA381229604 rs1383381214 |
57 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs925723143 CA223920479 |
58 | S>N | No |
ClinGen TOPMed |
|
|
COSM32591 CA381229593 VAR_035720 rs1185334988 |
59 | A>P | breast a breast cancer sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt TOPMed dbSNP gnomAD |
|
rs1185334988 CA381229594 |
59 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs374104237 CA6091564 |
60 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs753807008 CA6091563 |
61 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1046590432 CA223920468 CA381229572 |
62 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA381229569 rs1286569683 |
63 | R>C | No |
ClinGen gnomAD |
|
|
rs766257536 CA6091562 |
63 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766257536 CA381229567 |
63 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA223920457 rs34563314 |
64 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1449951568 CA381229558 |
65 | A>G | No |
ClinGen TOPMed |
|
|
rs1449951568 CA381229557 |
65 | A>V | No |
ClinGen TOPMed |
|
|
CA381229553 rs1290233697 |
66 | S>N | No |
ClinGen gnomAD |
|
|
rs754527175 CA223920438 |
67 | A>V | No |
ClinGen gnomAD |
|
|
CA6091559 rs763219479 |
69 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA381229538 rs763219479 |
69 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA223920430 rs943035887 |
69 | R>H | No |
ClinGen TOPMed |
|
|
CA6091558 rs763219479 |
69 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1318565582 CA381229535 |
70 | R>G | No |
ClinGen gnomAD |
|
|
CA381229532 rs1403865607 |
70 | R>Q | No |
ClinGen gnomAD |
|
|
CA381229523 rs1425178942 |
72 | R>C | No |
ClinGen gnomAD |
|
|
rs376796692 CA6091556 |
73 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6091555 rs745901708 |
75 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381229454 rs1490207641 |
82 | G>R | No |
ClinGen gnomAD |
|
|
CA381229444 rs1590819238 |
83 | E>G | No |
ClinGen Ensembl |
|
|
rs1419296120 CA381229438 |
84 | A>V | No |
ClinGen TOPMed |
|
|
CA381229434 rs1266809307 |
85 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA381229435 rs1266809307 |
85 | G>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 86 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs936619973 CA223920400 |
88 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 88 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs550156672 CA6091551 |
89 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381229400 rs1270425265 |
90 | P>L | No |
ClinGen gnomAD |
|
|
rs1432511754 CA381229399 |
91 | A>S | No |
ClinGen TOPMed |
|
|
rs778393678 CA6091548 |
91 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1404995979 CA381229382 |
94 | G>S | No |
ClinGen gnomAD |
|
|
CA381229363 rs1171689622 |
97 | G>E | No |
ClinGen gnomAD |
|
|
CA6091545 rs766306339 |
97 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6091544 rs756037331 |
98 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750239153 CA6091543 |
98 | L>P | No |
ClinGen ExAC TOPMed |
|
|
CA6091542 rs767321604 |
99 | W>S | No |
ClinGen ExAC |
|
|
rs763124479 CA6091541 |
100 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763124479 CA381229348 |
100 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381229340 rs923083299 |
101 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA6091540 rs201079799 |
103 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1241838267 CA381229320 |
104 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 105 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759695398 CA6091538 |
106 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs547888398 CA6091537 |
108 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381229277 rs1284800559 |
111 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA381229278 rs1284800559 |
111 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs527818591 CA223920240 |
114 | L>V | No |
ClinGen 1000Genomes TOPMed |
|
|
CA6091535 rs761222631 |
115 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA6091533 rs772522579 |
116 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA6091531 rs778643683 |
118 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA381229232 rs1468005642 |
119 | A>T | No |
ClinGen gnomAD |
|
|
rs779521475 CA6091528 |
120 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA6091527 rs559479401 |
121 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200126440 CA6091525 |
124 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750342717 CA6091526 |
124 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751253752 CA6091523 |
125 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6091524 rs200856351 |
125 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA223920190 rs1013786245 |
127 | R>Q | No |
ClinGen Ensembl |
|
|
CA6091521 rs759821241 |
128 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6091520 rs754020077 |
129 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222233882 CA381229180 |
129 | W>R | No |
ClinGen TOPMed |
|
|
rs1590819133 CA381229162 |
131 | W>G | No |
ClinGen Ensembl |
|
|
rs1038761996 CA223920173 |
133 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1224941130 CA381229142 |
134 | G>R | No |
ClinGen gnomAD |
|
|
CA381229131 rs1377602773 |
135 | A>V | No |
ClinGen gnomAD |
|
|
CA381229123 rs766537179 |
137 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563251721 CA6091518 |
137 | P>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766537179 CA6091519 |
137 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6091517 rs773795547 |
139 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381229107 rs1466710090 |
140 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6091515 rs762245978 |
142 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768351398 CA6091513 |
144 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs748914252 CA6091512 |
145 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA381229064 rs1443169399 |
146 | A>G | No |
ClinGen gnomAD |
|
|
CA6091510 rs542986811 |
148 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6091509 rs542986811 |
148 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1424982767 CA381229056 |
148 | G>S | No |
ClinGen TOPMed |
|
|
rs766332238 CA223920112 |
149 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA6091508 rs139901800 |
149 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381229050 rs139901800 |
149 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381229023 rs1337544089 |
153 | E>A | No |
ClinGen TOPMed |
|
|
rs35236409 CA223920106 |
154 | L>M | No |
ClinGen Ensembl |
|
|
rs775094396 CA381229010 |
155 | E>D | No |
ClinGen gnomAD |
|
|
rs554302041 CA6091505 |
155 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs11556920 VAR_053757 CA6091506 |
155 | E>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1381419109 CA381229002 |
157 | A>T | No |
ClinGen gnomAD |
|
|
CA6091504 rs755292228 |
157 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA381228996 rs754148530 |
158 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6091502 rs202046717 |
158 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6091503 rs754148530 |
158 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6091501 rs756234395 |
159 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768133640 CA6091499 |
160 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6091498 rs762210434 |
161 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762210434 CA381228979 |
161 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762210434 CA381228978 |
161 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381228976 rs554224877 |
162 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs554224877 CA6091495 |
162 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs769270824 CA381228971 |
163 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374326004 CA6091492 |
163 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769270824 CA6091493 |
163 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381228968 rs1220194494 |
164 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA381228955 rs1265928083 |
165 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6091491 rs775993683 |
167 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6091490 rs35178303 |
169 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777814910 CA6091488 |
171 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs758293993 CA6091487 |
172 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1294614284 CA381228911 |
173 | E>Q | No |
ClinGen gnomAD |
|
|
CA6091485 rs559096123 |
174 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767469201 CA6091482 |
174 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6091483 rs559096123 |
174 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs559096123 CA6091484 |
174 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381228902 rs1477916530 |
175 | A>T | No |
ClinGen gnomAD |
|
|
rs1428141033 CA381228898 |
175 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
VAR_053758 CA6091480 rs35983251 |
176 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1195087681 CA381228889 |
177 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6091477 rs35984938 |
178 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1256811174 CA381228883 |
178 | E>K | No |
ClinGen TOPMed |
|
|
rs759090903 CA6091475 |
179 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764999645 CA6091476 |
179 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1282874883 CA381228870 |
180 | V>D | No |
ClinGen gnomAD |
|
|
CA381228871 rs1282874883 |
180 | V>G | No |
ClinGen gnomAD |
|
|
rs1443692746 CA381228875 |
180 | V>I | No |
ClinGen TOPMed |
|
|
CA6091473 rs770380440 |
181 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369408043 CA6091472 |
181 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA381228858 rs1439845862 |
183 | D>H | No |
ClinGen gnomAD |
|
|
CA6091469 rs780921244 |
185 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381228837 rs1173799065 |
186 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA381228840 rs1404986067 |
186 | G>R | No |
ClinGen gnomAD |
|
|
CA381228833 rs1377657958 |
187 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6091466 rs375167428 |
188 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1014253957 CA223919925 |
188 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs892615165 CA223919920 |
189 | T>A | No |
ClinGen Ensembl |
|
|
rs371992814 CA6091465 |
189 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751580468 CA6091463 |
190 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs757349712 CA6091464 |
190 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA381228812 rs1256618414 |
191 | V>A | No |
ClinGen gnomAD |
|
|
CA6091461 rs567651755 |
191 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs567651755 CA6091460 |
191 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs567651755 CA381228814 |
191 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA223919874 rs1031187309 |
193 | P>A | No |
ClinGen TOPMed |
|
|
CA381228803 rs1031187309 |
193 | P>S | No |
ClinGen TOPMed |
|
|
rs1312094438 CA381228791 |
195 | R>C | No |
ClinGen gnomAD |
|
|
rs753456325 CA6091457 |
197 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA381228773 rs1382405853 |
198 | A>S | No |
ClinGen gnomAD |
|
|
CA381228766 rs1260778756 |
199 | I>T | No |
ClinGen TOPMed |
|
|
CA223919853 rs903961520 |
199 | I>V | No |
ClinGen Ensembl |
|
|
CA381228729 rs1565328243 |
205 | G>R | No |
ClinGen Ensembl |
|
|
CA6091453 rs772196870 |
208 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201760469 CA6091452 |
209 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 210 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1444398248 CA381228698 |
210 | L>P | No |
ClinGen gnomAD |
|
|
CA381228701 rs1182005950 |
210 | L>V | No |
ClinGen gnomAD |
|
|
rs774237632 CA381228696 CA6091451 |
211 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs768365077 CA6091450 |
212 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6091447 rs781281980 |
214 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 214 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771074895 CA6091446 |
215 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6091445 rs746725697 |
216 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA223919807 rs746725697 |
216 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1313436011 CA381228664 |
216 | P>S | No |
ClinGen gnomAD |
|
|
CA381228662 rs1040267946 |
217 | N>H | No |
ClinGen gnomAD |
|
|
CA6091442 rs753178223 |
217 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs758944868 CA6091443 |
217 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA223919798 rs1040267946 |
217 | N>Y | No |
ClinGen gnomAD |
|
|
rs1298768793 CA381228657 |
218 | V>M | No |
ClinGen gnomAD |
|
|
CA381228639 rs1423877203 |
220 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs907703384 CA223919784 |
222 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA381228630 rs907703384 |
222 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6091441 rs779428383 |
222 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA381228624 rs1473001511 |
223 | A>S | No |
ClinGen gnomAD |
|
|
rs1192673952 CA381228616 |
224 | H>R | No |
ClinGen gnomAD |
|
|
CA223919775 rs368047970 |
225 | T>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA381228609 rs368047970 |
225 | T>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1265364190 CA381228605 |
226 | L>F | No |
ClinGen gnomAD |
|
|
rs1590818857 CA381228601 |
227 | A>T | No |
ClinGen Ensembl |
|
|
CA6091438 rs766016724 |
227 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6091436 rs372200131 |
228 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381228580 rs1224743923 |
230 | H>R | No |
ClinGen gnomAD |
|
|
rs1298334922 CA381228576 |
231 | G>S | No |
ClinGen gnomAD |
|
|
CA381228566 rs1403769015 |
232 | G>D | No |
ClinGen gnomAD |
|
|
rs1403769015 CA381228565 |
232 | G>V | No |
ClinGen gnomAD |
|
|
CA381228550 rs1343212298 |
234 | D>E | No |
ClinGen gnomAD |
|
|
rs199555542 CA6091431 |
234 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6091428 rs771199689 |
235 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775351354 CA6091429 |
235 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6091430 rs775351354 |
235 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6091424 rs748202735 |
238 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs755506605 CA6091421 |
239 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381228530 rs779295493 |
239 | D>H | No |
ClinGen ExAC TOPMed |
|
|
rs779295493 CA6091422 |
239 | D>N | No |
ClinGen ExAC TOPMed |
|
|
rs1224334150 CA381228518 COSM930332 |
240 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs201336193 CA381228504 |
242 | A>G | No |
ClinGen gnomAD |
|
|
rs201336193 CA223919708 |
242 | A>V | No |
ClinGen gnomAD |
|
|
rs1194417195 CA381228502 |
243 | T>A | No |
ClinGen gnomAD |
|
|
rs1194417195 CA381228501 |
243 | T>S | No |
ClinGen gnomAD |
|
|
rs1222433065 CA381228489 |
245 | L>F | No |
ClinGen gnomAD |
|
|
CA6091416 rs750127555 |
246 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs375067810 CA6091415 |
247 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381228467 rs1326651511 |
249 | G>* | No |
ClinGen gnomAD |
|
|
rs1466987085 CA381228464 |
249 | G>E | No |
ClinGen gnomAD |
|
|
CA6091413 rs751013147 |
250 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381228454 rs1171575231 |
251 | L>R | No |
ClinGen gnomAD |
|
|
rs1423098952 CA381228450 |
252 | G>V | No |
ClinGen gnomAD |
|
|
CA6091412 rs764005131 |
253 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA381228447 rs764005131 |
253 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA381228428 rs1177237950 |
255 | Q>H | No |
ClinGen gnomAD |
|
|
CA6091411 rs35976814 |
255 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs537760067 CA6091410 |
256 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6091408 rs759280073 |
258 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs992394619 CA223918763 |
258 | A>V | No |
ClinGen TOPMed |
|
|
rs532178892 CA223918759 |
260 | A>T | No |
ClinGen 1000Genomes |
|
|
rs1280186657 CA381228400 |
260 | A>V | No |
ClinGen gnomAD |
|
|
rs748244808 CA6091405 |
262 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA381228383 rs1261447939 |
263 | A>T | No |
ClinGen gnomAD |
|
|
CA6091404 rs774480766 |
263 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA381228372 rs1292173007 |
265 | Q>* | No |
ClinGen TOPMed |
|
|
rs897474681 CA223918722 |
267 | A>V | No |
ClinGen TOPMed |
|
|
CA381228353 rs1357623091 |
268 | A>S | No |
ClinGen gnomAD |
|
|
CA381228348 rs746173988 |
269 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6091399 rs746173988 |
269 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381228342 rs1407973222 |
270 | V>M | No |
ClinGen gnomAD |
|
|
CA381228321 rs1157323363 |
273 | A>T | No |
ClinGen gnomAD |
|
|
CA6091398 rs375144201 |
274 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373116466 CA381228311 |
275 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373116466 CA6091397 |
275 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA223918710 rs971314633 |
276 | H>P | No |
ClinGen Ensembl |
|
|
rs1238840406 CA381228287 |
278 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1482093499 CA381228290 |
278 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs757807935 CA6091394 |
280 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381228280 rs757807935 |
280 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA381228272 rs1590818721 |
281 | L>P | No |
ClinGen Ensembl |
|
|
CA381228260 rs765103157 |
283 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6091391 rs765103157 |
283 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA381228258 COSM930331 rs1445535537 |
284 | R>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs759333110 CA6091389 |
284 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6091387 rs767692362 |
285 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6091385 rs368917929 |
286 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs996683963 CA223918609 |
286 | A>V | No |
ClinGen Ensembl |
|
|
CA223918605 rs901814810 |
287 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA381228242 rs901814810 |
287 | M>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 288 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6091384 rs768808406 |
289 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381436651 CA381228223 |
290 | V>I | No |
ClinGen gnomAD |
|
|
rs1163416916 CA381228216 |
291 | A>T | No |
ClinGen gnomAD |
|
|
CA6091383 rs201399826 |
292 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6091382 rs776151836 |
292 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA223918575 rs1004741210 |
293 | I>M | No |
ClinGen gnomAD |
|
|
CA381228203 rs1457393922 |
293 | I>T | No |
ClinGen TOPMed |
|
|
CA6091381 rs770355141 |
294 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6091378 rs770537924 |
297 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381228175 rs1342226015 |
298 | G>D | No |
ClinGen gnomAD |
|
|
CA6091377 rs376136724 |
299 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381228167 rs1181608989 |
300 | T>A | No |
ClinGen TOPMed |
|
|
rs1420733661 CA381228162 |
301 | N>H | No |
ClinGen TOPMed |
|
|
CA6091376 rs777242304 |
301 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA223918553 rs969037740 |
306 | T>M | No |
ClinGen TOPMed |
|
|
CA381228115 rs1229066356 |
308 | A>S | No |
ClinGen gnomAD |
|
|
CA6091374 rs752136962 |
308 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565327490 CA381228109 |
309 | A>T | No |
ClinGen Ensembl |
|
|
CA381228091 rs1276441542 |
312 | D>N | No |
ClinGen gnomAD |
|
|
rs1276441542 CA381228093 |
312 | D>Y | No |
ClinGen gnomAD |
|
|
CA381228073 rs1401917617 |
315 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1283357251 CA381228068 |
315 | Q>H | No |
ClinGen TOPMed |
|
|
CA381228074 rs1401917617 |
315 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1303014223 CA381228063 |
316 | T>I | No |
ClinGen gnomAD |
|
|
rs754899615 CA6091370 |
317 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165065269 CA381228053 |
318 | G>D | No |
ClinGen gnomAD |
|
|
rs1165065269 CA381228051 |
318 | G>V | No |
ClinGen gnomAD |
|
|
rs572064452 CA6091369 |
319 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs572064452 CA223918511 |
319 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1007757155 CA223918506 |
319 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA381228045 rs1317282982 |
320 | A>S | No |
ClinGen TOPMed |
|
|
rs766169490 CA6091368 |
320 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6091367 rs760344299 |
321 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs751824377 CA6091366 |
322 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265761946 CA381228018 |
324 | A>V | No |
ClinGen gnomAD |
|
|
rs1256383331 CA381228014 |
325 | V>A | No |
ClinGen gnomAD |
|
|
rs1256383331 CA381228013 |
325 | V>G | No |
ClinGen gnomAD |
|
|
CA6091364 rs368445804 |
325 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs927129524 CA223918469 |
326 | A>G | No |
ClinGen Ensembl |
|
|
rs868378707 CA223918465 |
327 | R>G | No |
ClinGen Ensembl |
|
|
CA6091363 rs774561781 |
327 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1341138660 CA381228001 |
328 | E>K | No |
ClinGen gnomAD |
|
|
rs1264380094 CA381227994 |
329 | E>K | No |
ClinGen TOPMed |
|
|
CA381227985 rs1301219772 |
330 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA6091362 rs770479694 |
330 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760098512 CA6091361 |
331 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1185226226 CA381227980 |
331 | D>N | No |
ClinGen TOPMed |
|
|
rs142632195 CA6091360 |
332 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6091359 rs771349793 |
334 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs747279780 CA6091358 |
335 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA6091357 rs777487612 |
336 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs149620690 CA6091355 |
337 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771621208 CA6091356 |
337 | R>W | No |
ClinGen ExAC |
|
|
rs1333131549 CA381227929 |
339 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 339 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374889298 CA6091354 |
341 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 341 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381227906 rs754951975 |
342 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370685853 CA6091352 |
343 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381227894 rs1285221163 |
345 | A>T | No |
ClinGen TOPMed |
|
|
rs1321552440 CA381227889 |
345 | A>V | No |
ClinGen TOPMed |
|
|
CA381227874 rs1590818582 |
347 | T>I | No |
ClinGen Ensembl |
|
|
rs750116186 CA6091349 |
349 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA381227840 rs1318717779 |
352 | A>S | No |
ClinGen gnomAD |
|
|
rs144753523 CA6091347 |
352 | A>V | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA381227837 rs1314536850 |
353 | A>T | No |
ClinGen gnomAD |
|
|
CA381227825 rs1446529688 |
355 | T>S | No |
ClinGen gnomAD |
|
|
CA6091344 rs759640396 |
356 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA381227819 rs1332989638 |
356 | P>T | No |
ClinGen gnomAD |
|
|
CA6091343 rs777210354 |
357 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs771277843 CA6091342 |
358 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6091341 rs761171175 |
358 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6091339 rs771763995 |
359 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs202078302 CA381227795 |
360 | D>E | No |
ClinGen TOPMed |
|
|
CA6091337 rs556832705 |
362 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381227786 rs556832705 |
362 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs376279736 CA381227776 |
363 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6091335 rs748734717 |
364 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381227760 rs1198861813 |
366 | Q>E | No |
ClinGen gnomAD |
|
|
rs1219381583 CA381227757 |
366 | Q>R | No |
ClinGen Ensembl |
|
|
CA381227752 rs1484244627 |
367 | A>T | No |
ClinGen gnomAD |
|
|
rs1156591057 CA381227744 |
368 | H>R | No |
ClinGen TOPMed |
|
|
rs780042211 CA6091334 |
368 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA223918295 rs766708058 |
369 | A>T | No |
ClinGen Ensembl |
|
|
CA381227732 rs1351994842 |
370 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs755999355 CA6091333 |
370 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381227721 rs745731608 |
372 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745731608 CA6091332 |
372 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1241290897 CA381227724 |
372 | A>P | No |
ClinGen gnomAD |
|
|
rs1241290897 CA381227722 |
372 | A>T | No |
ClinGen gnomAD |
|
|
rs745731608 CA381227720 |
372 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381227718 rs780825662 |
373 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780825662 CA6091331 |
373 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381227712 rs758732879 |
374 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758732879 CA6091330 |
374 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6091329 rs752998089 |
375 | V>A | No |
ClinGen ExAC TOPMed |
|
|
rs752998089 CA381227702 |
375 | V>G | No |
ClinGen ExAC TOPMed |
|
|
CA223918273 rs979684655 |
375 | V>M | No |
ClinGen TOPMed |
|
|
rs1417839083 CA381227695 |
377 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs755114348 CA6091328 |
378 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755114348 CA6091327 |
378 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1451606165 CA381227676 |
380 | G>V | No |
ClinGen TOPMed |
|
|
CA6091325 rs766970023 |
383 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6091324 COSM930330 rs184318096 |
384 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA6091323 rs574434476 |
385 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA223918200 rs879273139 |
387 | G>* | No |
ClinGen TOPMed |
|
|
CA381227627 rs1425666867 |
388 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs200656382 CA6091321 CA381227618 |
390 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200656382 CA6091320 |
390 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768226850 CA6091319 |
391 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6091318 rs748893329 |
392 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748893329 CA381227608 |
392 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381227599 rs1388479932 |
393 | A>V | No |
ClinGen TOPMed |
|
|
CA381227592 rs1404731169 |
395 | R>G | No |
ClinGen TOPMed |
|
|
rs1217821979 CA381227590 |
395 | R>K | No |
ClinGen gnomAD |
|
|
CA381227569 rs1444784470 |
398 | I>T | No |
ClinGen TOPMed |
|
|
CA381227564 rs1356003712 |
399 | E>K | No |
ClinGen gnomAD |
|
|
CA381227561 rs1282096364 |
399 | E>V | No |
ClinGen gnomAD |
|
|
rs774846803 CA6091317 |
403 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q9UHR6
1 regional properties for Q9UHR6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Zinc finger, HIT-type | 3 - 41 | IPR007529 |
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 |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q2TBW5 | ZNHIT2 | Zinc finger HIT domain-containing protein 2 | Bos taurus (Bovine) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEPAGPCGFC | PAGEVQPARY | TCPRCNAPYC | SLRCYRTHGT | CAENFYRDQV | LGELRGCSAP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PSRLASALRR | LRQQRETEDE | PGEAGLSSGP | APGGLSGLWE | RLAPGEKAAF | ERLLSRGEAG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RLLPPWRPWW | WNRGAGPQLL | EELDNAPGSD | AAELELAPAR | TPPDSVKDAS | AAEPAAAERV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LGDVPGACTP | VVPTRIPAIV | SLSRGPVSPL | VRFQLPNVLF | AYAHTLALYH | GGDDALLSDF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| CATLLGVSGA | LGAQQVFASA | EEALQAAAHV | LEAGEHPPGP | LGTRGAMHEV | ARILLGEGPT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NQKGYTLAAL | GDLAQTLGRA | RKQAVAREER | DHLYRARKKC | QFLLAWTNEN | EAALTPLALD |
| 370 | 380 | 390 | 400 | ||
| CARAHQAHAV | VAEEVAALTG | ELERLWGGPV | PPAPRTLIEE | LPS |