P56182
Gene name |
RRP1 (D21S2056E, NNP1, NOP52, RRP1A) |
Protein name |
Ribosomal RNA processing protein 1 homolog A |
Names |
Novel nuclear protein 1, NNP-1, Nucleolar protein Nop52, RRP1-like protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8568 |
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
5 structures for P56182
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8FKP | EM | 285 A | NO | 1-461 | PDB |
| 8FKR | EM | 289 A | NO | 1-461 | PDB |
| 8FKT | EM | 281 A | NO | 1-461 | PDB |
| 8FKV | EM | 247 A | NO | 1-461 | PDB |
| AF-P56182-F1 | Predicted | AlphaFoldDB |
461 variants for P56182
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA058439 RCV000207187 rs763767114 |
114 | R>C | Ductal breast carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1452399333 CA410400609 |
2 | V>A | No |
ClinGen TOPMed |
|
|
rs751693513 CA10048990 |
2 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs867558058 CA321688114 |
3 | S>* | No |
ClinGen Ensembl |
|
|
CA410400645 rs1449005912 |
5 | V>A | No |
ClinGen TOPMed |
|
|
rs1375507678 CA410400639 |
5 | V>M | No |
ClinGen gnomAD |
|
|
rs1312463592 CA410400656 |
7 | L>F | No |
ClinGen gnomAD |
|
|
rs746135596 CA10048993 |
8 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA410400675 rs1481499111 |
10 | E>A | No |
ClinGen gnomAD |
|
|
CA410400715 rs1199175403 |
12 | Q>H | No |
ClinGen gnomAD |
|
|
CA10048994 rs756401494 |
13 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs866593435 CA321688128 |
15 | Q>H | No |
ClinGen gnomAD |
|
|
CA410400760 rs1195629456 |
16 | R>C | No |
ClinGen gnomAD |
|
|
rs1268176675 CA410400768 |
16 | R>H | No |
ClinGen gnomAD |
|
|
CA410400762 rs1195629456 |
16 | R>S | No |
ClinGen gnomAD |
|
|
rs1375084510 CA410400779 |
17 | L>P | No |
ClinGen gnomAD |
|
|
rs1421524683 CA410400785 |
18 | A>P | No |
ClinGen TOPMed |
|
|
CA10048996 rs749605541 |
19 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10048998 rs774679026 |
20 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410400823 rs1327278262 |
21 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1367695860 CA410400829 |
21 | E>V | No |
ClinGen gnomAD |
|
|
CA410400839 rs770392911 |
22 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA10049000 rs770392911 |
22 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs530432421 CA10049001 |
22 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 23 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410400851 rs1441139807 |
23 | V>M | No |
ClinGen gnomAD |
|
|
rs1014136422 CA321688163 |
25 | R>Q | No |
ClinGen TOPMed |
|
|
CA410400904 rs1286070892 |
27 | R>Q | No |
ClinGen TOPMed |
|
|
rs548567025 CA10049003 |
29 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1488206650 CA410400930 |
30 | R>G | No |
ClinGen gnomAD |
|
|
CA410400960 rs1314447706 |
32 | L>F | No |
ClinGen TOPMed |
|
|
CA10049005 rs762699166 |
33 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA410401002 rs1193462432 |
35 | Y>C | No |
ClinGen gnomAD |
|
|
rs1421965956 CA410401024 |
37 | V>F | No |
ClinGen gnomAD |
|
|
rs1166122146 CA410401037 |
38 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1349942219 CA410401043 |
38 | A>V | No |
ClinGen gnomAD |
|
|
CA10049007 rs751501362 |
39 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291398276 CA410401067 |
40 | T>S | No |
ClinGen gnomAD |
|
|
CA10049008 rs757206842 |
44 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410401116 rs1235002051 |
45 | G>S | No |
ClinGen gnomAD |
|
|
rs114632703 CA10049023 |
48 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs114632703 CA10049024 |
48 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10049027 rs750490127 |
50 | D>A | No |
ClinGen ExAC |
|
|
CA321689527 rs987774479 |
50 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1332910932 CA410401517 |
51 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 51 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1332910932 CA410401515 |
51 | E>Q | No |
ClinGen gnomAD |
|
|
CA10049030 rs754160691 |
54 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10049029 rs766533429 |
54 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200752656 CA410401665 |
62 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
CA10049032 rs779207686 |
63 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10049033 rs753052026 |
63 | M>R | No |
ClinGen ExAC |
|
|
CA410401670 rs779207686 |
63 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747485764 CA10049036 |
64 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA10049034 rs758854546 |
64 | W>G | No |
ClinGen ExAC |
|
|
CA10049035 rs758854546 |
64 | W>R | No |
ClinGen ExAC |
|
|
CA10049041 rs774030035 |
65 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10049039 rs779527474 |
65 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA10049037 rs769345136 |
65 | M>L | No |
ClinGen ExAC TOPMed |
|
|
CA10049038 rs779527474 |
65 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA10049040 rs779527474 |
65 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA410401715 rs761619063 |
66 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs761619063 CA10049042 |
66 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs773320493 CA10049046 |
66 | Q>H | No |
ClinGen ExAC |
|
|
CA10049043 rs761619063 |
66 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA10049044 rs1555889809 |
66 | Q>R | No |
ClinGen Ensembl |
|
|
rs201407956 CA10049048 CA10049049 |
67 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10049047 rs760664822 |
67 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA410401739 rs1168462993 |
68 | K>E | No |
ClinGen gnomAD |
|
|
rs897169803 CA321689634 |
68 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10049051 rs765454845 |
71 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771995948 CA10049080 |
73 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771995948 CA410402356 |
73 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10049081 rs747889574 |
74 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs747889574 CA10049082 |
74 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA321690563 rs1054970949 |
76 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs777710952 CA410402432 |
77 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777710952 CA10049083 |
77 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10049085 rs771027384 |
79 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA410402505 rs1356423002 |
81 | Q>H | No |
ClinGen gnomAD |
|
|
CA10049087 rs776753739 |
83 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10049086 rs776753739 |
83 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1016534662 CA321690570 |
84 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs769976627 CA10049088 |
85 | A>G | No |
ClinGen ExAC |
|
|
rs763243729 CA10049090 |
87 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10049089 rs371605643 |
87 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764243391 CA10049091 |
88 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1260163120 CA410402654 |
89 | T>A | No |
ClinGen gnomAD |
|
|
rs531306920 CA10049092 |
89 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10049094 rs767836326 |
90 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10049095 rs750986561 |
91 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA10049123 rs779817474 |
93 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA10049124 CA410402906 rs114296196 |
93 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA410402894 rs779817474 |
93 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA410402910 rs1294914791 |
94 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA410402950 rs1390937041 |
97 | Q>E | No |
ClinGen gnomAD |
|
|
CA10049125 rs768772947 |
97 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410402970 rs1281100546 |
98 | A>D | No |
ClinGen gnomAD |
|
|
rs746930949 CA321690964 |
99 | F>S | No |
ClinGen Ensembl |
|
|
rs1219145935 CA410403005 |
100 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA410403052 CA321690973 rs546860126 |
103 | M>I | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1050893842 CA321690968 |
103 | M>V | No |
ClinGen gnomAD |
|
|
CA10049127 rs748434339 |
105 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs768764518 CA321690999 |
105 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA321691027 rs982540625 |
106 | E>D | No |
ClinGen TOPMed |
|
|
rs369505824 CA10049129 |
106 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760895439 CA10049130 |
108 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410403128 rs1478379410 |
109 | G>S | No |
ClinGen gnomAD |
|
|
CA10049134 rs751047987 |
114 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761572987 CA10049135 |
117 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 118 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410403267 rs1423556649 |
118 | F>L | No |
ClinGen gnomAD |
|
|
rs1300965054 CA410403292 |
120 | M>L | No |
ClinGen gnomAD |
|
|
CA410403294 rs1394833264 |
120 | M>T | No |
ClinGen Ensembl |
|
|
CA410403290 rs1300965054 |
120 | M>V | No |
ClinGen gnomAD |
|
|
CA10049162 rs777897637 |
121 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA410403705 rs757437914 |
122 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs781700913 CA10049165 |
122 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10049164 rs757437914 |
122 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA10049167 COSM1264612 rs374122140 |
123 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA10049166 rs746186788 |
123 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1333405815 CA410403742 |
124 | M>I | No |
ClinGen gnomAD |
|
|
rs776181908 CA10049168 |
124 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs749788511 CA321692577 CA410403791 |
127 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1377776608 CA410403784 |
127 | N>S | No |
ClinGen gnomAD |
|
|
rs772774157 CA10049171 |
128 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10049170 rs367993051 |
128 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA410403797 rs367993051 |
128 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1296244309 CA410403846 |
131 | K>E | No |
ClinGen TOPMed |
|
|
rs1463391171 CA410403855 |
132 | V>F | No |
ClinGen TOPMed |
|
|
CA410403860 rs1262925976 |
133 | L>V | No |
ClinGen gnomAD |
|
|
rs1469328784 CA410403878 |
135 | M>I | No |
ClinGen TOPMed |
|
|
rs1321949178 CA410403877 |
135 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1397880153 CA410403874 |
135 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs760248566 CA10049172 |
136 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259373530 CA410403902 |
137 | G>V | No |
ClinGen gnomAD |
|
|
rs1601868779 CA410403944 |
139 | E>D | No |
ClinGen Ensembl |
|
|
rs765996018 CA10049173 |
140 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1178797749 CA410403966 |
141 | R>G | No |
ClinGen TOPMed |
|
|
CA10049221 rs750460535 |
144 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs766658198 CA10049223 |
148 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs754182732 CA10049224 |
150 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA321693839 rs775222458 |
153 | E>K | No |
ClinGen Ensembl |
|
|
rs753301682 CA10049227 |
154 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA410404667 rs1601870611 |
156 | H>P | No |
ClinGen Ensembl |
|
|
rs758838830 CA10049228 |
157 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1306464918 CA410404699 |
157 | P>S | No |
ClinGen Ensembl |
|
|
rs1569015298 CA410404759 |
159 | S>I | No |
ClinGen Ensembl |
|
|
rs745338361 CA10049230 |
159 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA410404818 rs1378731628 |
161 | A>V | No |
ClinGen gnomAD |
|
|
rs1363557520 CA410404860 |
162 | P>R | No |
ClinGen gnomAD |
|
|
CA10049234 rs768554861 |
163 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10049236 rs748099910 |
164 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1469744469 CA410404895 |
164 | G>S | No |
ClinGen gnomAD |
|
|
rs1448504124 CA410404919 |
165 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1439091704 CA410404981 |
167 | S>N | No |
ClinGen TOPMed |
|
|
rs891234992 CA410405118 |
172 | I>M | No |
ClinGen gnomAD |
|
|
rs766335419 CA10049240 |
172 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA10049239 rs760793666 |
172 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA410405271 rs1569015365 |
180 | V>A | No |
ClinGen Ensembl |
|
| TCGA novel | 181 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1438604202 CA410405289 |
181 | G>V | No |
ClinGen TOPMed |
|
|
rs988228931 CA321693938 |
182 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1569015375 CA410405304 |
182 | A>V | No |
ClinGen Ensembl |
|
|
rs758930459 CA10049245 |
183 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10049246 rs764549852 |
184 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10049247 rs752030642 |
184 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA321693944 rs1018295414 |
184 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA410405394 rs1460106035 |
185 | L>F | No |
ClinGen gnomAD |
|
|
rs778389533 CA10049271 |
185 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140646060 CA410405411 |
186 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10049272 rs140646060 |
186 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10049275 rs747008262 |
190 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781358683 CA10049277 |
192 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs34224504 CA10049279 |
194 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs34224504 CA10049278 VAR_053894 |
194 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1359155313 CA410405549 |
195 | D>G | No |
ClinGen gnomAD |
|
|
rs371737632 CA10049281 |
195 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371737632 COSM1264610 CA10049282 |
195 | D>N | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs774633179 CA10049283 |
198 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA321694092 rs751552058 |
199 | R>G | No |
ClinGen gnomAD |
|
|
rs1486454584 CA410405609 |
199 | R>I | No |
ClinGen gnomAD |
|
|
CA410405607 rs1486454584 |
199 | R>T | No |
ClinGen gnomAD |
|
|
rs2838378 CA410405622 |
200 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10049284 rs376009014 |
200 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753419754 CA10049286 |
201 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753419754 CA410405623 |
201 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753419754 CA10049287 COSM1031184 |
201 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1418904506 CA410405631 |
202 | A>V | No |
ClinGen TOPMed |
|
|
rs372422903 CA410405633 |
203 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10049289 rs752452177 |
203 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs372422903 CA10049288 |
203 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758116144 CA10049290 |
204 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA410405682 rs551764515 |
209 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs551764515 CA10049311 |
209 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10049313 rs201870763 |
211 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10049314 rs755980170 |
212 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410405746 rs1405558946 |
214 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 214 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780122512 CA10049315 |
215 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs771526495 CA10049316 |
215 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410405781 rs1468357301 |
217 | I>M | No |
ClinGen gnomAD |
|
|
CA10049317 rs755223651 |
217 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs373040342 CA10049318 |
220 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202035823 CA10049320 |
221 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773617935 CA10049321 |
225 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773617935 CA410405906 |
225 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747472096 CA10049322 |
225 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1353860457 COSM444551 CA410405930 |
226 | P>L | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA410405922 rs1252943107 |
226 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA410405976 rs1415824343 |
229 | I>T | No |
ClinGen TOPMed |
|
|
rs762594727 CA10049325 |
229 | I>V | No |
ClinGen ExAC |
|
|
rs1322196689 CA410406017 |
231 | D>G | No |
ClinGen gnomAD |
|
|
rs763679263 CA10049326 |
232 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs763679263 CA10049327 |
232 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1287666272 CA410406114 |
237 | D>E | No |
ClinGen TOPMed |
|
|
CA410406105 rs1360420851 |
237 | D>G | No |
ClinGen TOPMed |
|
|
rs761522934 CA10049328 |
239 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs767222092 CA10049329 |
241 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs951064307 CA321694397 |
241 | E>K | No |
ClinGen TOPMed |
|
|
CA410406185 rs1230938888 |
242 | E>Q | No |
ClinGen gnomAD |
|
|
CA10049330 rs750177255 |
242 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA410406204 rs1477384765 |
243 | V>G | No |
ClinGen TOPMed |
|
|
rs200537007 CA10049331 |
243 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1428445931 CA410406210 |
244 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs753741244 CA10049334 |
245 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10049336 rs371358839 |
246 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10049337 rs748385452 |
247 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758578096 CA10049338 |
247 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA10049340 CA10049339 rs567553240 |
248 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770351031 CA321694423 |
248 | D>G | No |
ClinGen gnomAD |
|
|
CA10049341 rs771393239 |
249 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs777328464 CA10049342 |
250 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA410406250 rs1271381543 |
251 | S>C | No |
ClinGen gnomAD |
|
|
CA410406246 rs1295397988 |
251 | S>P | No |
ClinGen TOPMed |
|
|
CA410406260 rs201857663 |
253 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201857663 CA10049343 |
253 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10049345 rs201075773 |
254 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1361309654 CA410406269 |
254 | G>V | No |
ClinGen gnomAD |
|
|
CA410406270 rs1222870470 |
255 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA10049346 rs200937759 |
256 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200937759 CA10049347 |
256 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772909448 CA10049348 |
256 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772909448 CA10049349 |
256 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753827154 CA10049351 |
258 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs766136307 CA10049350 |
258 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs753827154 CA10049352 |
258 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs752763619 CA10049354 |
259 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771599434 CA10049355 |
259 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs912847502 CA321694470 |
261 | S>F | No |
ClinGen Ensembl |
|
|
rs1163293124 CA410406307 |
262 | Q>* | No |
ClinGen gnomAD |
|
|
rs1402925216 CA410406311 |
262 | Q>H | No |
ClinGen gnomAD |
|
|
rs751810835 CA10049357 |
262 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA321694488 rs200385471 |
265 | S>P | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 266 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1326500428 CA410406342 |
267 | K>E | No |
ClinGen gnomAD |
|
|
CA410406349 rs1429484844 |
268 | P>A | No |
ClinGen gnomAD |
|
|
CA10049358 RCV000964089 rs58028593 |
268 | P>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10049359 rs58028593 |
268 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10049361 rs770281078 |
269 | P>H | No |
ClinGen ExAC TOPMed |
|
|
rs770281078 CA410406355 |
269 | P>L | No |
ClinGen ExAC TOPMed |
|
|
CA410406354 rs1601871499 |
269 | P>S | No |
ClinGen Ensembl |
|
|
rs201622848 CA10049364 |
270 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10049363 rs201622848 COSM1264611 |
270 | A>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs117749073 CA10049365 |
270 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs974733824 CA321698312 |
273 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA410406804 rs1222915966 |
274 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1481714467 CA410406822 |
277 | E>K | No |
ClinGen gnomAD |
|
|
rs1481714467 CA410406823 |
277 | E>Q | No |
ClinGen gnomAD |
|
|
rs1370054478 CA410406841 |
279 | E>V | No |
ClinGen TOPMed |
|
|
CA410406848 rs1250225900 |
280 | A>G | No |
ClinGen gnomAD |
|
|
rs544862341 CA10049394 |
281 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10049396 rs750644934 |
285 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA410406887 rs1480400593 |
286 | G>D | No |
ClinGen gnomAD |
|
|
CA10049399 rs754431651 |
288 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs766636330 CA10049398 |
288 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10049402 rs746471903 |
293 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10049404 rs563106945 |
294 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756932112 CA10049403 |
294 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA10049406 rs769697557 |
295 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs772341923 CA10049432 |
299 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA10049434 rs188937098 |
301 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1454278025 CA410407007 |
301 | E>V | No |
ClinGen gnomAD |
|
|
CA10049436 rs777083793 |
303 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA410407016 rs777083793 |
303 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs990118066 CA321699003 |
304 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA410407036 rs879065863 |
306 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
rs879065863 CA410407037 |
306 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA321699007 rs879065863 |
306 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1555890841 CA10049437 |
307 | L>M | No |
ClinGen Ensembl |
|
|
CA321699033 rs914593381 |
308 | F>C | No |
ClinGen TOPMed |
|
|
CA321699036 rs111865363 |
309 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA410407055 rs1318004786 |
309 | E>G | No |
ClinGen gnomAD |
|
|
CA10049440 rs765573835 |
310 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA410407059 rs1266907610 |
310 | M>V | No |
ClinGen gnomAD |
|
|
rs753271460 CA10049441 |
311 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753271460 CA410407066 |
311 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373245016 CA10049442 |
313 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA410407081 rs1482729417 |
313 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs749855846 CA10049444 |
314 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs755826699 CA10049445 |
315 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA10049447 rs753509960 |
316 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs754874509 CA410407101 |
316 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA10049448 rs754874509 |
316 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1337485584 CA410407102 |
317 | P>T | No |
ClinGen gnomAD |
|
|
rs201861906 CA10049449 |
318 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs897562846 CA321699089 |
318 | S>P | No |
ClinGen Ensembl |
|
|
CA410407119 rs1283767444 |
319 | Q>H | No |
ClinGen TOPMed |
|
|
rs200706235 COSM1031185 CA10049451 |
323 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs200154081 CA10049452 |
323 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10049453 rs200154081 |
323 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1601873755 CA410407158 |
325 | Y>C | No |
ClinGen Ensembl |
|
|
CA10049455 rs776765535 |
326 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA10049456 rs915770 VAR_053895 |
326 | K>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA321699117 rs1007775548 |
328 | I>V | No |
ClinGen gnomAD |
|
|
rs1311204232 CA410407180 |
329 | R>Q | No |
ClinGen gnomAD |
|
|
CA10049457 rs376330937 COSM444552 |
329 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 330 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA410407236 rs1269672252 |
336 | G>R | No |
ClinGen TOPMed |
|
|
rs1333240205 CA410407257 |
337 | G>V | No |
ClinGen gnomAD |
|
|
CA10049518 rs748501232 |
340 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA410407280 rs1444291128 |
341 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs772291941 CA10049519 |
342 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA410407288 rs1288980387 |
342 | D>N | No |
ClinGen gnomAD |
|
|
rs778472440 CA10049520 |
344 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1345917120 CA410407323 |
347 | K>Q | No |
ClinGen gnomAD |
|
|
rs541555584 CA10049523 |
348 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10049526 rs768315459 |
351 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410407352 rs768315459 |
351 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10049527 rs559589580 |
351 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs767289804 CA10049529 |
354 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA410407379 rs1364579576 |
356 | R>G | No |
ClinGen TOPMed |
|
|
CA10049530 rs200137494 |
357 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs766457415 CA10049534 |
358 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs147437710 CA10049535 |
360 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA321700291 rs914649766 |
361 | T>M | No |
ClinGen Ensembl |
|
|
CA410407420 rs1601875356 |
362 | K>T | No |
ClinGen Ensembl |
|
|
CA10049539 rs752838989 |
363 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA10049538 rs779233018 |
363 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA410407432 rs531133686 |
364 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA410407436 rs1218891604 |
364 | Q>H | No |
ClinGen TOPMed |
|
|
CA10049540 rs531133686 |
364 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745680911 CA10049542 |
365 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs200910420 CA10049541 |
365 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10049543 rs771516121 |
366 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs772094375 CA10049544 |
366 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1202278717 CA410407457 |
368 | L>P | No |
ClinGen gnomAD |
|
|
rs1268838161 CA410407459 |
369 | R>G | No |
ClinGen gnomAD |
|
|
CA410407463 rs1208351864 |
369 | R>S | No |
ClinGen TOPMed |
|
|
rs748871129 CA10049545 |
369 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs201873899 CA10049546 |
370 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410407487 rs1375497757 |
373 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 376 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368644724 CA10049590 |
376 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs61737065 CA10049591 |
377 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1278822137 CA410407560 |
381 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA410407563 rs1311260260 |
381 | P>L | No |
ClinGen gnomAD |
|
|
rs1278822137 CA410407561 |
381 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1207712854 CA410407566 |
382 | P>A | No |
ClinGen gnomAD |
|
|
rs563040118 CA10049592 |
382 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs530647149 CA10049594 |
384 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs530647149 CA410407586 |
384 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA321700949 rs113833203 |
384 | P>S | No |
ClinGen gnomAD |
|
|
CA321700946 rs113833203 |
384 | P>T | No |
ClinGen gnomAD |
|
|
rs1160289315 CA410407598 |
385 | G>D | No |
ClinGen TOPMed |
|
|
rs1424642773 CA410407619 |
386 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA10049596 rs762063455 |
386 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA321700964 rs767943393 |
387 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA10049597 rs767943393 |
387 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1170851769 CA410407642 |
388 | R>G | No |
ClinGen gnomAD |
|
|
CA10049598 rs750707803 |
389 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10049599 rs756672405 |
390 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs766831586 CA10049600 |
391 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1352137672 CA410407694 |
391 | S>R | No |
ClinGen gnomAD |
|
|
rs1475248321 CA410407711 |
392 | R>S | No |
ClinGen TOPMed |
|
|
rs754318876 CA10049601 |
393 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA410407739 rs1274962807 |
394 | R>S | No |
ClinGen gnomAD |
|
|
rs1366414497 CA410407761 |
396 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1601876588 CA410407809 |
399 | D>A | No |
ClinGen Ensembl |
|
|
rs1342688869 CA410407811 |
399 | D>E | No |
ClinGen gnomAD |
|
|
rs1299503115 CA410407798 |
399 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA321700989 rs374983239 |
401 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10049603 rs374983239 |
401 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10049605 rs756802588 |
402 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs917493659 CA410407857 |
403 | R>G | No |
ClinGen gnomAD |
|
|
CA321701000 rs371352025 |
403 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
COSM1161409 rs917493659 CA321700996 |
403 | R>W | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA410407889 rs1167107922 |
405 | E>D | No |
ClinGen gnomAD |
|
|
CA410407879 rs1449184773 |
405 | E>Q | No |
ClinGen gnomAD |
|
|
CA321701003 rs1044545656 |
406 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA410407899 rs1044545656 |
406 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1348830908 CA410407960 |
410 | P>R | No |
ClinGen gnomAD |
|
|
rs1323616286 CA410407950 |
410 | P>S | No |
ClinGen gnomAD |
|
|
rs769611441 CA410407969 |
411 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1167480277 CA410407962 |
411 | G>S | No |
ClinGen gnomAD |
|
|
rs769611441 CA10049608 |
411 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA321701012 rs749405960 |
412 | T>A | No |
ClinGen Ensembl |
|
|
rs374647783 CA10049609 |
412 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771099338 CA321701018 |
413 | A>G | No |
ClinGen gnomAD |
|
|
CA410407984 rs1365487257 |
413 | A>T | No |
ClinGen gnomAD |
|
|
rs771099338 CA410407993 |
413 | A>V | No |
ClinGen gnomAD |
|
|
CA321701022 rs1029595130 |
414 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA410407996 rs1029595130 |
414 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA10049610 rs749236769 |
415 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1436172220 CA410408016 |
415 | R>Q | No |
ClinGen TOPMed |
|
|
CA410408014 rs749236769 |
415 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA410408022 rs1289237217 |
416 | A>T | No |
ClinGen gnomAD |
|
|
CA321701026 rs774571978 |
416 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA410408034 rs889315095 |
417 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA321701032 rs759815874 |
418 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
rs61737064 CA10049612 |
419 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372893290 CA321701035 |
419 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1239634477 CA410408057 |
420 | D>N | No |
ClinGen gnomAD |
|
|
rs1239634477 CA410408061 |
420 | D>Y | No |
ClinGen gnomAD |
|
|
CA10049613 rs762121219 |
421 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10049614 rs772142270 |
422 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459360360 CA410408095 |
423 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 423 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA321701055 rs957955295 |
425 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA10049615 rs375793237 COSM1031186 |
425 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA410408108 rs375793237 |
425 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA410408110 rs1315925827 |
426 | G>S | No |
ClinGen gnomAD |
|
|
CA410408125 rs1283469182 |
427 | Q>R | No |
ClinGen gnomAD |
|
|
CA410408135 rs1353492753 |
428 | R>K | No |
ClinGen gnomAD |
|
|
rs1457264068 CA410408165 |
430 | A>V | No |
ClinGen TOPMed |
|
|
CA10049617 rs766713616 |
431 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs754408625 CA10049618 |
431 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1281158458 CA410408186 |
432 | Q>R | No |
ClinGen gnomAD |
|
|
rs953802167 CA321701073 |
434 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1255940180 CA410408225 |
435 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1255940180 CA410408229 |
435 | R>M | No |
ClinGen TOPMed gnomAD |
|
|
CA410408244 rs1473875036 |
437 | P>S | No |
ClinGen gnomAD |
|
|
CA410408257 rs763607317 |
438 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763607317 CA10049622 |
438 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10049621 rs759967067 |
438 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410408267 rs1442230822 |
440 | L>V | No |
ClinGen TOPMed |
|
|
CA410408282 rs1403925942 |
441 | T>N | No |
ClinGen gnomAD |
|
|
rs1032713187 CA321701082 |
443 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1032713187 CA410408311 |
443 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs751020820 CA10049623 |
444 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751020820 CA321701089 |
444 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA410408319 rs1353437225 |
444 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 447 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10049624 rs756760981 |
447 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780757767 CA10049625 |
448 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs775964722 CA321701109 |
449 | N>D | No |
ClinGen TOPMed |
|
|
rs1350018917 CA410408384 |
449 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA410408398 rs1276769452 |
450 | V>I | No |
ClinGen gnomAD |
|
|
CA410408416 rs1345980727 |
451 | Q>R | No |
ClinGen gnomAD |
|
|
rs755930249 CA10049627 |
453 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749255086 CA10049629 |
453 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755930249 CA10049628 |
453 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1206552467 CA410408471 |
454 | E>D | No |
ClinGen gnomAD |
|
|
CA10049633 rs546622210 |
456 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1376681932 CA410408516 |
457 | K>Q | No |
ClinGen TOPMed |
|
|
rs868547959 CA410408550 |
459 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs578093450 CA10049635 COSM1240107 |
459 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs578093450 CA10049634 |
459 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA321701134 rs868547959 |
459 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10049637 rs760945245 |
461 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1376916644 CA410408574 |
462 | E>C | No |
ClinGen TOPMed |
No associated diseases with P56182
No regional properties for P56182
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P56182 | |||
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromosome | A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| preribosome, large subunit precursor | A preribosomal complex consisting of 27SA, 27SB, and/or 7S pre-rRNA, 5S rRNA, ribosomal proteins including late-associating large subunit proteins, and associated proteins; a precursor of the eukaryotic cytoplasmic large ribosomal subunit. |
| preribosome, small subunit precursor | A preribosomal complex consisting of 20S pre-rRNA, ribosomal proteins including late-associating small subunit proteins, and associated proteins; a precursor of the eukaryotic cytoplasmic small ribosomal subunit. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| rRNA processing | Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVSRVQLPPE | IQLAQRLAGN | EQVTRDRAVR | KLRKYIVART | QRAAGGFTHD | ELLKVWKGLF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YCMWMQDKPL | LQEELGRTIS | QLVHAFQTTE | AQHLFLQAFW | QTMNREWTGI | DRLRLDKFYM |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LMRMVLNESL | KVLKMQGWEE | RQIEELLELL | MTEILHPSSQ | APNGVKSHFI | EIFLEELTKV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GAEELTADQN | LKFIDPFCRI | AARTKDSLVL | NNITRGIFET | IVEQAPLAIE | DLLNELDTQD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EEVASDSDES | SEGGERGDAL | SQKRSEKPPA | GSICRAEPEA | GEEQAGDDRD | SGGPVLQFDY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EAVANRLFEM | ASRQSTPSQN | RKRLYKVIRK | LQDLAGGIFP | EDEIPEKACR | RLLEGRRQKK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TKKQKRLLRL | QQERGKGEKE | PPSPGMERKR | SRRRGVGADP | EARAEAGEQP | GTAERALLRD |
| 430 | 440 | 450 | 460 | ||
| QPRGRGQRGA | RQRRRTPRPL | TSARAKAANV | QEPEKKKKRR | E |