Q9H6T3
Gene name |
RPAP3 |
Protein name |
RNA polymerase II-associated protein 3 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79657 |
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
11 structures for Q9H6T3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4CGV | X-ray | 254 A | A/B/C/D | 120-255 | PDB |
| 4CGW | X-ray | 300 A | A/B | 265-381 | PDB |
| 6EZ4 | NMR | - | A | 535-665 | PDB |
| 6FD7 | NMR | - | A | 133-255 | PDB |
| 6FDP | NMR | - | A | 281-395 | PDB |
| 6FDT | NMR | - | A | 281-396 | PDB |
| 6FM8 | X-ray | 178 A | A | 576-625 | PDB |
| 6FO1 | EM | 357 A | G | 1-665 | PDB |
| 6GXZ | X-ray | 296 A | A/C | 281-445 | PDB |
| 6ZBK | X-ray | 149 A | A | 133-255 | PDB |
| AF-Q9H6T3-F1 | Predicted | AlphaFoldDB |
494 variants for Q9H6T3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs886300491 CA236475510 |
2 | T>A | No |
ClinGen Ensembl |
|
|
rs1451859790 CA384511024 |
3 | S>A | No |
ClinGen TOPMed |
|
|
CA6530688 rs182172391 |
7 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA384510990 rs1176345423 |
8 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1051630838 CA236475479 |
9 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
COSM176797 CA6530687 rs761613202 |
9 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6530686 rs774310982 |
12 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs781449266 CA6530684 |
16 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6530683 rs776917570 |
17 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384510927 rs1405565880 |
17 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA384510929 rs776917570 |
17 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1489007048 CA384510892 |
22 | Q>* | No |
ClinGen TOPMed |
|
|
CA384510888 rs747245634 |
22 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs190469889 CA6530680 |
24 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6530679 rs144653550 |
26 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374367674 CA6530676 |
26 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374367674 CA6530677 |
26 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6530678 rs144653550 |
26 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200443326 CA6530675 |
27 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200443326 CA6530674 |
27 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 32 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755707813 CA6530672 |
33 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1044795496 CA236475402 |
33 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 39 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6530671 rs750119778 |
40 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1485320248 CA384510696 |
41 | E>K | No |
ClinGen gnomAD |
|
|
rs767111937 CA6530670 |
42 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767111937 CA236475387 |
42 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6530668 rs751364323 |
46 | N>K | No |
ClinGen ExAC gnomAD |
|
|
COSM4150105 CA236475365 rs934812452 |
47 | G>D | ovary [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs989050970 CA236475366 |
47 | G>S | No |
ClinGen Ensembl |
|
|
CA6530667 rs544943912 |
48 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA384510609 rs1457168144 |
49 | P>T | No |
ClinGen TOPMed |
|
|
rs776792610 CA6530665 |
50 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs370359722 CA6530666 |
50 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6530643 rs773222451 |
56 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs761948776 CA6530641 |
58 | N>S | No |
ClinGen ExAC |
|
|
rs997144280 CA236474472 COSM3416881 |
60 | N>S | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs769034382 CA6530639 |
63 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA384510063 rs1242180754 |
66 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6530637 rs775951773 |
67 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA236474453 rs1038540943 |
67 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA384510045 rs1295032389 |
68 | K>E | No |
ClinGen TOPMed |
|
|
CA236474435 rs908977487 |
70 | K>N | No |
ClinGen gnomAD |
|
|
rs745374505 CA6530635 |
70 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1448403638 CA384509990 |
71 | E>D | No |
ClinGen gnomAD |
|
|
rs200333932 CA6530634 |
71 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384509994 rs1316014670 |
71 | E>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA384509969 rs1592488977 |
73 | S>Y | No |
ClinGen Ensembl |
|
| rs1326677198 | 76 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 76 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 78 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1455423472 CA384509886 |
79 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA384509866 rs1413957222 |
81 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 82 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384509833 rs1182668677 |
84 | R>G | No |
ClinGen gnomAD |
|
|
CA236474383 rs550674751 |
84 | R>S | No |
ClinGen 1000Genomes |
|
|
rs756875418 CA6530631 |
85 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs928939148 CA236474379 |
85 | I>V | No |
ClinGen gnomAD |
|
|
rs746662437 CA6530630 |
86 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1362399482 CA384509732 |
93 | W>R | No |
ClinGen gnomAD |
|
|
CA236474366 rs530474989 |
94 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs530474989 CA6530628 |
94 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs369727824 CA236474343 |
98 | V>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs138031379 CA6530607 |
100 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777547327 CA6530606 |
100 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369699014 CA236466621 |
103 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 103 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747952814 CA384509092 |
104 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs747952814 CA6530604 |
104 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA384509051 rs1317197532 |
107 | K>T | No |
ClinGen gnomAD |
|
|
rs150350108 CA6530602 |
108 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA236466604 rs994992515 |
109 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1391274800 CA384509039 |
109 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6530601 rs753744196 |
110 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1468222855 CA384509025 |
111 | T>A | No |
ClinGen TOPMed |
|
|
rs1430653316 CA384509022 |
111 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 113 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757260445 CA6530599 |
114 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs151225713 CA384508999 |
115 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151225713 CA6530598 |
115 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200075662 CA6530597 |
117 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 118 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM72478 CA384508958 rs1279256902 |
121 | S>A | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs374360356 COSM1361806 CA6530596 |
121 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA236466563 rs761096038 |
122 | E>* | No |
ClinGen Ensembl |
|
|
CA6530594 rs143202605 |
122 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6530593 rs200770635 |
123 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750480505 CA236466543 |
124 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA384508918 rs1307794902 |
127 | H>R | No |
ClinGen TOPMed |
|
|
CA6530589 rs772923540 |
132 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6530590 rs771519429 |
132 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771787826 CA6530587 |
133 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs771787826 CA384508857 |
133 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1359840156 CA384508853 |
133 | A>V | No |
ClinGen TOPMed |
|
|
rs1244934875 CA384508849 |
134 | L>F | No |
ClinGen TOPMed |
|
|
rs1236122914 CA384508837 |
135 | V>A | No |
ClinGen gnomAD |
|
|
rs1451515631 CA384508810 |
138 | E>* | No |
ClinGen gnomAD |
|
|
COSM348673 rs1451515631 CA384508812 |
138 | E>Q | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6530585 rs767728120 |
139 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1232257829 CA384508720 |
140 | G>S | No |
ClinGen gnomAD |
|
|
CA6530569 rs766791863 |
141 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA689402252 rs1465414297 |
143 | Y>* | No |
ClinGen TOPMed |
|
|
rs1221246968 CA384508654 |
145 | K>N | No |
ClinGen gnomAD |
|
|
rs1592485725 CA384508632 |
147 | G>E | No |
ClinGen Ensembl |
|
|
rs1387060444 CA384508613 |
149 | Y>C | No |
ClinGen TOPMed |
|
|
CA6530567 rs772794029 |
150 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1222445274 CA384508603 |
150 | D>Y | No |
ClinGen gnomAD |
|
|
rs947556681 CA236465678 |
152 | A>T | No |
ClinGen Ensembl |
|
|
CA6530564 rs761519915 |
154 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1337825961 CA384508559 |
154 | D>H | No |
ClinGen TOPMed |
|
|
rs773848035 CA6530563 |
155 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA6530561 rs142330780 |
157 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs539839637 CA384508489 CA6530559 |
160 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA236465656 rs775355665 |
160 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6530560 rs775355665 |
160 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6530557 rs777790875 |
161 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1254572882 CA384508482 |
161 | D>G | No |
ClinGen TOPMed |
|
|
CA6530558 rs745826626 |
161 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs868582798 CA236465647 |
162 | A>V | No |
ClinGen Ensembl |
|
|
CA6530555 rs748274753 |
163 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487379083 CA384508440 |
165 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 165 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6530554 rs778990593 |
166 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA6530553 rs755294849 |
167 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384508418 rs755294849 |
167 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1266853670 CA384508423 |
167 | P>T | No |
ClinGen gnomAD |
|
|
CA6530551 COSM939673 rs371796000 |
168 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6530550 rs756644826 |
169 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6530549 rs751001324 |
170 | P>L | No |
ClinGen ExAC |
|
|
CA6530548 rs768182145 |
171 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761391075 CA384508387 |
171 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs761391075 CA6530547 |
171 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs763583598 CA6530545 |
172 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs866675210 CA236465574 |
173 | R>K | No |
ClinGen Ensembl |
|
|
CA236465564 rs368272179 COSM1361805 |
174 | A>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed |
|
CA6530543 rs775098141 |
174 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs993326819 CA236465555 |
180 | L>V | No |
ClinGen TOPMed |
|
|
CA384507261 rs1412596307 |
183 | F>C | No |
ClinGen TOPMed |
|
| TCGA novel | 184 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6530530 rs768131123 |
191 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6530528 rs769966506 |
193 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6530529 rs769966506 |
193 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6530526 rs746148571 |
194 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs772091518 CA384506996 |
195 | A>S | No |
ClinGen TOPMed |
|
|
CA236461819 rs772091518 |
195 | A>T | No |
ClinGen TOPMed |
|
|
CA384506966 rs1171918577 |
197 | N>S | No |
ClinGen gnomAD |
|
|
CA6530525 rs775177297 |
198 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA6530524 rs555701427 |
199 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1436768294 CA384506918 |
199 | S>R | No |
ClinGen TOPMed |
|
|
rs370357624 CA6530523 |
201 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6530522 rs776478652 |
202 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA384506872 rs1592481918 |
202 | K>R | No |
ClinGen Ensembl |
|
|
rs1186463939 CA384506858 |
203 | A>P | No |
ClinGen gnomAD |
|
|
CA6530521 rs202047980 |
205 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1345340407 CA384506812 |
206 | R>T | No |
ClinGen TOPMed |
|
|
CA6530520 rs367995387 |
207 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6530518 COSM693850 rs768816369 |
207 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 210 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749369834 CA6530517 |
210 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA384506746 rs1282260549 |
211 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs139987705 CA236461792 |
212 | F>L | No |
ClinGen ESP gnomAD |
|
|
CA6530516 rs780403948 |
213 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1484555410 CA384506721 |
213 | A>T | No |
ClinGen gnomAD |
|
|
CA6530514 rs746165934 |
218 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA384506653 rs1343066604 |
218 | E>K | No |
ClinGen gnomAD |
|
|
rs1565720595 CA384506620 |
219 | E>D | No |
ClinGen Ensembl |
|
|
CA384506636 rs1244136756 |
219 | E>K | No |
ClinGen gnomAD |
|
|
rs145789473 CA6530513 |
220 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145789473 CA6530512 |
220 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1268435987 CA384506590 |
221 | K>N | No |
ClinGen TOPMed |
|
|
CA6530511 rs752138258 |
223 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1169229941 CA384505817 |
224 | Y>D | No |
ClinGen TOPMed |
|
|
CA384505805 rs1432048718 |
224 | Y>F | No |
ClinGen TOPMed |
|
|
CA236460635 rs199890720 |
225 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA236460632 rs377575216 |
227 | V>A | No |
ClinGen gnomAD |
|
|
rs1384140874 CA384505684 |
233 | N>S | No |
ClinGen TOPMed |
|
|
CA6530485 rs778328621 |
234 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs138580530 CA6530484 |
235 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1289625368 CA384505606 |
239 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1592480841 CA384505503 |
245 | S>N | No |
ClinGen Ensembl |
|
|
rs952988463 CA236460607 |
245 | S>R | No |
ClinGen TOPMed |
|
|
rs771116418 CA6530466 |
247 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1209335748 CA384505311 |
247 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs149831248 CA6530464 |
248 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384505261 rs972933355 |
250 | S>F | No |
ClinGen TOPMed |
|
|
CA6530463 rs772573715 |
250 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA236459707 rs972933355 |
250 | S>Y | No |
ClinGen TOPMed |
|
|
CA6530462 rs370722633 |
251 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA384505232 rs1436299134 |
252 | E>V | No |
ClinGen gnomAD |
|
|
rs1354433044 CA384505197 |
255 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1332769853 CA384505183 |
255 | Y>S | No |
ClinGen gnomAD |
|
|
rs1414464088 CA384505165 |
256 | P>L | No |
ClinGen gnomAD |
|
|
CA384505161 rs754455964 |
257 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6530460 rs754455964 |
257 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384505057 rs1465178509 |
262 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6530458 rs779747752 |
262 | V>L | No |
ClinGen ExAC |
|
|
rs1249721189 CA384505047 |
263 | I>F | No |
ClinGen gnomAD |
|
|
rs755792667 CA6530456 |
263 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA236459638 rs753267036 |
264 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1286245368 CA384504983 |
266 | T>K | No |
ClinGen gnomAD |
|
|
rs750171115 CA6530455 |
267 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1339566430 CA384504954 |
268 | G>R | No |
ClinGen gnomAD |
|
|
COSM1240094 CA6530453 rs757218659 |
270 | R>* | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA384504922 rs757218659 |
270 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6530452 rs764174535 |
270 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764174535 CA6530451 |
270 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6530450 rs759673181 |
273 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs901450550 CA236459616 |
274 | E>D | No |
ClinGen Ensembl |
|
|
rs766555295 CA6530448 |
277 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA384504321 rs1351055782 |
278 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1336198208 CA384504325 |
278 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1375944568 CA384504314 |
279 | K>T | No |
ClinGen TOPMed |
|
|
rs1322240236 CA384504278 |
282 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA6530446 rs377619102 |
283 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs772355326 CA6530445 |
285 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6530444 rs774819368 |
288 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs139952845 CA6530442 |
288 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6530443 rs774819368 |
288 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA236459046 rs1033277242 |
291 | G>* | No |
ClinGen TOPMed gnomAD |
|
|
rs769153971 CA6530414 |
297 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs567025650 CA236459029 CA384504057 |
298 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA689431599 rs1278355304 |
300 | R>* | No |
ClinGen TOPMed |
|
|
CA6530412 rs763440593 |
300 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA6530410 rs746734456 |
302 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs150689330 CA6530411 |
302 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384503972 rs1365671466 |
306 | T>S | No |
ClinGen gnomAD |
|
|
CA384503965 rs1293156562 |
307 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs189398208 CA236458996 |
307 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6530409 rs189398208 |
307 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6530408 rs377484905 |
308 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6530407 rs144540934 |
310 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756126888 CA6530406 |
311 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA6530405 rs756126888 |
311 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA236458969 rs925882161 |
312 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1474550469 CA384503906 |
314 | A>T | No |
ClinGen TOPMed |
|
|
CA6530404 rs750576949 |
314 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA384503898 rs1159188794 |
315 | N>D | No |
ClinGen gnomAD |
|
|
rs1420360337 CA384503894 |
315 | N>I | No |
ClinGen gnomAD |
|
|
CA6530403 rs767725622 |
316 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA236458959 rs978589637 |
316 | A>V | No |
ClinGen gnomAD |
|
|
CA6530401 rs751868721 |
318 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs764470160 CA6530400 |
321 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA384503820 rs1329010230 |
322 | R>G | No |
ClinGen gnomAD |
|
|
rs1196452011 CA384503797 |
323 | A>G | No |
ClinGen TOPMed |
|
|
rs1424483521 CA384503756 |
325 | A>V | No |
ClinGen TOPMed |
|
|
rs763412726 CA6530399 |
326 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1310504721 CA384503685 |
330 | Q>* | No |
ClinGen gnomAD |
|
|
CA384503681 rs1300738514 |
330 | Q>R | No |
ClinGen gnomAD |
|
|
CA384503094 rs751745819 |
331 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs977777702 CA236455333 |
332 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 333 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA236455323 rs1030168716 |
334 | E>G | No |
ClinGen Ensembl |
|
|
rs1350257107 CA384503056 |
334 | E>K | No |
ClinGen gnomAD |
|
|
rs1408818036 CA384503027 |
336 | E>* | No |
ClinGen TOPMed |
|
|
CA384503024 rs1360471691 |
336 | E>D | No |
ClinGen TOPMed |
|
|
CA6530381 rs758674512 |
336 | E>V | No |
ClinGen ExAC TOPMed |
|
|
CA6530380 rs753170805 |
340 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6530379 rs540039944 |
340 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6530378 rs760102251 |
341 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs760102251 CA384502964 |
341 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 342 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766019965 CA6530376 |
343 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384502830 rs1400006886 |
346 | D>G | No |
ClinGen gnomAD |
|
|
rs1451073376 CA384502824 |
347 | G>C | No |
ClinGen TOPMed |
|
|
rs760302949 CA6530375 |
348 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs772978474 CA6530374 |
349 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1300387176 CA384502761 |
356 | R>S | No |
ClinGen TOPMed |
|
|
rs1194364675 CA384502750 |
358 | T>S | No |
ClinGen gnomAD |
|
|
CA384502747 rs1448554021 |
359 | A>S | No |
ClinGen gnomAD |
|
|
CA384502748 rs1448554021 |
359 | A>T | No |
ClinGen gnomAD |
|
|
CA384502742 rs1362790734 |
360 | R>G | No |
ClinGen TOPMed |
|
|
rs185854362 CA6530373 |
361 | T>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6530371 rs774203420 |
363 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6530369 rs749250833 |
364 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6530370 rs749250833 |
364 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384502713 rs749250833 |
364 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs975991707 CA236455255 |
367 | N>S | No |
ClinGen TOPMed |
|
|
CA6530367 rs555920494 |
371 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA384502565 rs1421669762 |
373 | F>L | No |
ClinGen TOPMed |
|
|
CA6530350 rs775389930 |
376 | V>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 377 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs994610481 CA236453885 |
378 | L>R | No |
ClinGen Ensembl |
|
|
rs888662976 CA236453848 |
383 | N>S | No |
ClinGen TOPMed |
|
|
rs1027249990 CA236453844 |
385 | Q>R | No |
ClinGen TOPMed |
|
|
rs777920088 CA6530347 |
386 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 387 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA236453839 rs142406061 |
389 | E>G | No |
ClinGen ESP TOPMed |
|
|
CA384502382 rs1592474860 |
391 | S>C | No |
ClinGen Ensembl |
|
|
rs1164228482 CA384502375 |
392 | K>E | No |
ClinGen gnomAD |
|
|
rs748433627 CA6530346 |
392 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748433627 CA6530345 |
392 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6530344 rs779043728 |
394 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs755348161 CA6530343 |
395 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1388535551 CA384502255 |
399 | E>D | No |
ClinGen gnomAD |
|
|
CA6530325 rs748226237 |
399 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1478389828 CA384502234 |
401 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 401 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA236453669 rs148012785 |
405 | D>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1469650739 CA384502191 |
405 | D>Y | No |
ClinGen gnomAD |
|
|
CA6530324 rs779184026 |
410 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA236453661 rs764483511 |
411 | T>A | No |
ClinGen Ensembl |
|
|
CA384502098 rs1447542607 |
413 | R>S | No |
ClinGen gnomAD |
|
|
rs1052879674 CA236453660 |
414 | Q>P | No |
ClinGen TOPMed |
|
|
rs769068751 CA6530323 |
416 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA384502067 rs1198240799 |
417 | V>L | No |
ClinGen gnomAD |
|
|
CA384502046 rs1565716876 |
419 | P>S | No |
ClinGen Ensembl |
|
|
CA384502039 rs375056834 |
420 | I>L | No |
ClinGen ESP gnomAD |
|
|
rs375056834 CA236453651 |
420 | I>V | No |
ClinGen ESP gnomAD |
|
|
rs1055715545 CA236453649 |
423 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6530321 rs749599471 COSM267353 |
424 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs749599471 CA236453647 |
424 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347111306 CA384501989 |
425 | H>Y | No |
ClinGen TOPMed |
|
|
CA384501974 rs934495973 |
426 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs934495973 CA236453612 |
426 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6530319 rs756643050 |
427 | G>* | No |
ClinGen ExAC gnomAD |
|
|
CA6530318 rs144528022 |
427 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA384501967 rs756643050 |
427 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1376214944 CA384501956 |
428 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1309988486 CA384501953 |
429 | T>A | No |
ClinGen TOPMed |
|
|
rs1161366989 CA384501703 |
432 | L>R | No |
ClinGen gnomAD |
|
|
CA384501707 rs1304190739 COSM131130 |
432 | L>V | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs551301038 CA6530304 |
434 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1257555646 CA384501691 |
434 | K>R | No |
ClinGen gnomAD |
|
|
rs1026345061 CA236446465 |
435 | V>L | No |
ClinGen TOPMed |
|
|
CA6530303 rs368438367 |
436 | I>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1250624007 CA384501674 |
437 | I>L | No |
ClinGen gnomAD |
|
|
CA6530302 rs376683177 |
440 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA236446441 rs149293092 |
441 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs372384112 CA6530301 |
441 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1228225145 COSM1705505 CA384501630 |
443 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs770256863 CA6530300 |
445 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA384501611 TCGA novel rs1481234160 |
446 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
|
rs531087920 CA6530299 |
447 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs531087920 CA6530298 |
447 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6530297 rs757705979 |
452 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6530296 rs746467436 |
452 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA384501570 rs758005169 |
453 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6530294 rs758005169 |
453 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA384501547 rs1460813801 |
457 | A>T | No |
ClinGen gnomAD |
|
|
rs138605014 CA6530292 |
458 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1565713635 CA384501484 |
466 | A>S | No |
ClinGen Ensembl |
|
|
CA384501481 rs1406686922 |
466 | A>V | No |
ClinGen gnomAD |
|
|
CA6530290 rs764521578 |
467 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA384501473 rs1459694996 |
468 | V>I | No |
ClinGen TOPMed |
|
|
rs760545058 CA6530288 |
469 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6530289 rs766275122 |
469 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384501462 rs1221309385 |
470 | A>T | No |
ClinGen gnomAD |
|
|
rs774443950 CA6530287 |
471 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs764305087 CA6530286 |
472 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6530285 rs763469006 |
475 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA384501421 rs1170594958 |
477 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6530284 rs775837173 |
478 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1307845532 CA384501410 |
478 | K>T | No |
ClinGen gnomAD |
|
|
rs770203975 CA6530283 |
481 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1291517913 CA384501372 |
483 | D>V | No |
ClinGen gnomAD |
|
|
CA384501369 rs1439901838 |
484 | D>N | No |
ClinGen gnomAD |
|
|
CA6530282 rs746174790 |
485 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA384501360 rs746174790 |
485 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA236446282 rs975080454 |
487 | P>H | No |
ClinGen Ensembl |
|
|
CA6530280 rs771417626 |
488 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776870361 CA6530281 |
488 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6530279 rs747500555 |
489 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs377599159 CA236446275 |
489 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1231896476 CA384501330 |
490 | D>G | No |
ClinGen TOPMed |
|
|
CA384501313 rs1159239794 |
493 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs778292657 CA6530278 |
496 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA384501291 rs1473690661 |
496 | V>L | No |
ClinGen gnomAD |
|
|
CA236446271 rs1042095531 |
497 | L>F | No |
ClinGen TOPMed |
|
|
CA6530277 rs146145310 |
497 | L>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1231616213 CA384501268 |
499 | I>M | No |
ClinGen TOPMed |
|
| TCGA novel | 501 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384501244 rs1255335575 |
503 | S>G | No |
ClinGen gnomAD |
|
|
rs113096543 CA6530274 |
504 | D>G | No |
ClinGen Ensembl |
|
|
CA6530272 rs373147823 |
505 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6530271 rs373147823 |
505 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384501215 rs1310594344 |
507 | S>F | No |
ClinGen gnomAD |
|
|
CA6530269 rs766133338 |
509 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1167029790 CA384501187 |
510 | P>R | No |
ClinGen gnomAD |
|
|
CA384501180 rs1237887819 |
511 | Q>H | No |
ClinGen TOPMed |
|
|
rs75275772 CA236445610 |
511 | Q>K | No |
ClinGen Ensembl |
|
|
CA384501167 rs1374053570 |
513 | S>I | No |
ClinGen gnomAD |
|
|
rs1374053570 CA384501168 |
513 | S>T | No |
ClinGen gnomAD |
|
|
rs1258526872 CA384501163 |
514 | L>V | No |
ClinGen TOPMed |
|
|
CA6530248 rs781275030 |
518 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 520 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1188779531 CA384501108 |
521 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs199534990 CA6530245 |
523 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA384501093 rs765275115 |
523 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1338476521 CA384501091 |
524 | E>K | No |
ClinGen gnomAD |
|
|
CA384501064 rs1251710998 |
527 | P>S | No |
ClinGen gnomAD |
|
|
CA384501055 rs1565713131 |
528 | I>M | No |
ClinGen Ensembl |
|
|
CA6530243 rs772086384 |
528 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384501051 rs1349506887 |
529 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6530242 rs142310260 |
530 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA236445547 rs773883246 |
530 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1292071295 CA384501039 |
531 | E>* | No |
ClinGen gnomAD |
|
|
CA6530241 rs766637144 |
537 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760962372 CA6530240 |
539 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6530239 rs773632539 |
540 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563331115 CA6530238 |
542 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs138253744 CA6530237 |
543 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1456799023 CA384500957 |
544 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1456799023 CA384500956 |
544 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA384500939 rs1476218030 |
547 | A>T | No |
ClinGen gnomAD |
|
|
CA236445475 rs796820212 |
547 | A>V | No |
ClinGen Ensembl |
|
|
rs779510671 CA6530233 |
549 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs779510671 CA6530234 |
549 | S>W | No |
ClinGen ExAC gnomAD |
|
|
CA6530231 rs745648332 |
550 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1250910308 CA384500909 |
551 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA236445430 rs916413198 |
551 | Q>R | No |
ClinGen Ensembl |
|
|
rs781185048 CA6530230 |
552 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs958331895 CA236445394 |
553 | E>D | No |
ClinGen Ensembl |
|
|
CA6530227 COSM3812084 rs777789963 |
553 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6530226 rs754954744 |
555 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1032441799 CA236445368 |
557 | R>T | No |
ClinGen Ensembl |
|
|
rs1481012056 CA384500866 |
558 | Q>R | No |
ClinGen TOPMed |
|
|
CA6530224 rs766505474 |
560 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs112192272 CA6530223 |
561 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384500845 rs112192272 |
561 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 562 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_057354 rs11168196 CA6530222 |
564 | D>Y | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
CA236445347 rs183182384 |
565 | M>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA384500813 rs1592467833 |
566 | L>V | No |
ClinGen Ensembl |
|
|
CA6530221 rs767906024 |
567 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs762193325 CA6530220 |
568 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs764500345 CA384500757 |
572 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6530196 rs764500345 |
572 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs761807080 CA236444575 |
575 | P>L | No |
ClinGen Ensembl |
|
|
CA6530195 rs763567998 |
575 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6530193 rs764801994 |
576 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1236960435 CA384500685 |
582 | F>L | No |
ClinGen gnomAD |
|
|
rs200439810 CA6530191 |
582 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371153105 CA6530190 |
584 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6530189 rs558162340 |
587 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs558162340 CA384500656 |
587 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6530188 rs773116436 |
588 | P>Q | No |
ClinGen ExAC |
|
|
CA236444516 rs985199805 |
589 | D>V | No |
ClinGen Ensembl |
|
|
CA384500632 rs1328244447 |
590 | V>G | No |
ClinGen gnomAD |
|
|
rs771880756 CA6530187 |
592 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA236444491 rs866887339 |
592 | N>S | No |
ClinGen Ensembl |
|
|
rs778745026 CA6530185 |
595 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 596 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA384500565 rs1415961454 |
600 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1167224892 CA384500552 |
602 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA384500543 rs1475716668 |
603 | I>V | No |
ClinGen gnomAD |
|
|
CA6530183 rs745956387 |
604 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA384500518 rs1183215669 |
605 | K>E | No |
ClinGen gnomAD |
|
|
rs1479466540 CA384500515 |
605 | K>R | No |
ClinGen gnomAD |
|
|
rs1232624290 CA384500507 |
606 | E>G | No |
ClinGen gnomAD |
|
|
CA384500490 rs1592466713 |
608 | P>L | No |
ClinGen Ensembl |
|
|
rs1258712798 CA384500478 |
610 | L>P | No |
ClinGen TOPMed |
|
|
rs185968381 CA6530163 |
611 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs896302007 CA236443727 |
613 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1213690888 CA384500455 |
614 | I>L | No |
ClinGen gnomAD |
|
|
CA6530162 rs768580885 |
616 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1056339207 CA236443726 |
617 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs781302023 CA6530160 |
619 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs745940783 CA6530161 |
619 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6530158 rs747216184 |
621 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs758733529 CA6530156 |
622 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1394513348 CA384500399 |
623 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1166330893 CA384500395 |
623 | R>M | No |
ClinGen gnomAD |
|
|
CA6530155 rs753008678 |
625 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6530153 rs201840394 |
626 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779558901 CA6530154 |
626 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384500359 rs1592466631 |
628 | V>G | No |
ClinGen Ensembl |
|
|
rs1332161528 CA384500352 |
629 | M>I | No |
ClinGen TOPMed |
|
|
CA236443677 rs757944993 |
629 | M>T | No |
ClinGen Ensembl |
|
|
CA6530152 rs753375734 |
631 | M>T | No |
ClinGen ExAC |
|
|
rs369232178 CA236443676 |
634 | T>A | No |
ClinGen Ensembl |
|
|
CA6530151 rs372539547 |
635 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA384500294 rs1193511328 |
637 | K>N | No |
ClinGen gnomAD |
|
|
CA384618573 rs1185357236 |
639 | A>V | No |
ClinGen gnomAD |
|
|
rs772250615 CA6530135 |
640 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201603359 CA6530134 |
640 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA384618567 rs201603359 |
640 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6530133 rs779468601 |
641 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs922562021 CA237131316 |
646 | I>V | No |
ClinGen Ensembl |
|
|
CA6530132 rs755509985 |
647 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1277842487 CA384618499 |
650 | G>E | No |
ClinGen gnomAD |
|
|
CA6530131 rs754355096 |
653 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs780726964 CA6530130 |
654 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384618464 rs1303309136 |
655 | S>C | No |
ClinGen gnomAD |
|
|
rs767190780 CA6530127 |
657 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756914994 CA6530126 |
658 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565711081 CA384618445 |
658 | E>G | No |
ClinGen Ensembl |
|
|
rs200781166 CA6530125 |
660 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA384618433 rs1398782180 |
660 | K>R | No |
ClinGen TOPMed |
|
|
rs1373256764 CA384618418 |
662 | R>T | No |
ClinGen gnomAD |
|
|
rs762762381 CA384618405 |
664 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762762381 CA6530123 |
664 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762762381 CA384618406 |
664 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA384618398 rs1454728270 |
665 | G>V | No |
ClinGen TOPMed |
No associated diseases with Q9H6T3
9 regional properties for Q9H6T3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Tetratricopeptide repeat 1 | 133 - 166 | IPR001440-1 |
| repeat | Tetratricopeptide repeat 1 | 202 - 234 | IPR001440-2 |
| repeat | Tetratricopeptide repeat | 133 - 166 | IPR019734-1 |
| repeat | Tetratricopeptide repeat | 167 - 200 | IPR019734-2 |
| repeat | Tetratricopeptide repeat | 201 - 234 | IPR019734-3 |
| repeat | Tetratricopeptide repeat | 282 - 315 | IPR019734-4 |
| repeat | Tetratricopeptide repeat | 316 - 349 | IPR019734-5 |
| repeat | Tetratricopeptide repeat | 350 - 383 | IPR019734-6 |
| domain | RNA-polymerase II-associated protein 3-like, C-terminal domain | 546 - 636 | IPR025986 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| chaperone complex | A protein complex required for the non-covalent folding or unfolding, maturation, stabilization or assembly or disassembly of macromolecular structures. Usually active during or immediately after completion of translation. Many chaperone complexes contain heat shock proteins. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| R2TP complex | A highly conserved protein complex comprised of two ATP-dependent DNA helicases (Rvb1p and Rvb2p in yeast, Pontin52 and Reptin52 in humans), Pih1p in yeast or PIH1D1 in humans, and Tah1 in yeast or RPAP3 in humans. The complex associates with Hsp90 and is thought to have a role in assembly of large protein or protein/nucleic acid complexes. In this role it is involved in multiple processes such as box C/D snoRNP biogenesis, phosphatidylinositol-3 kinase-related protein kinase (PIKK) signaling, RNA polymerase II assembly, and others. |
| RPAP3/R2TP/prefoldin-like complex | A protein complex first characterized in human and comprised of a R2TP module (R2TP complex), a prefoldin-like module (containing both prefoldin-like proteins and canonical prefoldins), WD40 repeat protein Monad/WDR92 and DNA-dependent RNA polymerase subunit RPB5. This complex might have chaperone activity. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| protein stabilization | Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTSANKAIEL | QLQVKQNAEE | LQDFMRDLEN | WEKDIKQKDM | ELRRQNGVPE | ENLPPIRNGN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FRKKKKGKAK | ESSKKTREEN | TKNRIKSYDY | EAWAKLDVDR | ILDELDKDDS | THESLSQESE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SEEDGIHVDS | QKALVLKEKG | NKYFKQGKYD | EAIDCYTKGM | DADPYNPVLP | TNRASAYFRL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KKFAVAESDC | NLAVALNRSY | TKAYSRRGAA | RFALQKLEEA | KKDYERVLEL | EPNNFEATNE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LRKISQALAS | KENSYPKEAD | IVIKSTEGER | KQIEAQQNKQ | QAISEKDRGN | GFFKEGKYER |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AIECYTRGIA | ADGANALLPA | NRAMAYLKIQ | KYEEAEKDCT | QAILLDGSYS | KAFARRGTAR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TFLGKLNEAK | QDFETVLLLE | PGNKQAVTEL | SKIKKELIEK | GHWDDVFLDS | TQRQNVVKPI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DNPPHPGSTK | PLKKVIIEET | GNLIQTIDVP | DSTTAAAPEN | NPINLANVIA | ATGTTSKKNS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SQDDLFPTSD | TPRAKVLKIE | EVSDTSSLQP | QASLKQDVCQ | SYSEKMPIEI | EQKPAQFATT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VLPPIPANSF | QLESDFRQLK | SSPDMLYQYL | KQIEPSLYPK | LFQKNLDPDV | FNQIVKILHD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| FYIEKEKPLL | IFEILQRLSE | LKRFDMAVMF | MSETEKKIAR | ALFNHIDKSG | LKDSSVEELK |
| KRYGG |