P0C7P3
PR
Gene name |
SLFN14 |
Protein name |
Protein SLFN14 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:342618 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for P0C7P3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P0C7P3-F1 | Predicted | AlphaFoldDB |
619 variants for P0C7P3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001267345 CA358898 RCV000210920 VAR_075786 rs869320716 |
218 | K>E | Platelet-type bleeding disorder 20 Inborn genetic diseases BDPLT20; the mutation results in strongly reduced protein stability [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001003529 rs869320715 CA358902 VAR_075787 RCV000210923 |
219 | K>N | Platelet-type bleeding disorder 20 BDPLT20; the mutation results in strongly reduced protein stability [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000210921 RCV001003915 rs869320714 CA358900 VAR_075788 |
220 | V>D | Platelet-type bleeding disorder 20 BDPLT20; the mutation results in weakly reduced protein stability [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA358675 rs757188030 VAR_076796 RCV000210922 |
223 | R>W | Platelet-type bleeding disorder 20 BDPLT20 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000907374 rs192498365 CA8504624 RCV002280895 |
486 | R>* | Platelet-type bleeding disorder 20 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001331674 rs762787287 COSM1226650 CA8504586 |
635 | T>I | Platelet-type bleeding disorder 20 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs202215190 CA8504565 RCV001335688 |
716 | L>F | Platelet-type bleeding disorder 20 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001335689 rs771699684 |
718 | P>missing | Platelet-type bleeding disorder 20 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000934079 RCV002544474 CA8504543 rs150974695 |
824 | D>E | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2072671208 RCV001270499 |
2 | E>missing | No |
ClinVar dbSNP |
|
|
CA8504725 rs774339589 |
3 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302380463 CA399135011 |
3 | S>N | No |
ClinGen gnomAD |
|
|
CA399135020 rs774339589 |
3 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764452383 CA8504723 |
5 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1274661246 CA399134911 |
8 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1388144264 CA399134852 |
11 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA290057117 rs562791403 |
14 | E>K | No |
ClinGen 1000Genomes |
|
|
CA399134761 rs1457181260 |
16 | I>M | No |
ClinGen gnomAD |
|
|
CA399134767 rs1409911559 |
16 | I>T | No |
ClinGen TOPMed |
|
|
CA399134744 rs1161850428 |
17 | V>A | No |
ClinGen gnomAD |
|
|
CA8504721 rs145760799 |
17 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399134753 rs145760799 |
17 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1440889826 CA399134733 |
18 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA399134705 rs1377395697 |
19 | V>A | No |
ClinGen gnomAD |
|
|
CA290057110 rs888308042 |
21 | R>K | No |
ClinGen TOPMed |
|
|
rs765822693 CA8504720 |
22 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290057087 rs576920564 |
23 | I>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA290057099 rs576920564 |
23 | I>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA8504719 rs760024723 |
25 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA290057082 rs376520213 |
26 | E>D | No |
ClinGen Ensembl |
|
|
CA399134491 rs1306709513 |
30 | K>R | No |
ClinGen TOPMed |
|
|
rs1465316816 CA399134438 |
32 | M>I | No |
ClinGen gnomAD |
|
|
rs777074687 CA8504718 |
36 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1349414360 CA399134279 |
40 | S>A | No |
ClinGen TOPMed |
|
|
CA399134261 rs1233366270 |
41 | E>A | No |
ClinGen TOPMed |
|
|
rs1057480319 CA290057075 COSM977982 |
41 | E>D | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 41 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs559923195 CA290057071 |
44 | R>G | No |
ClinGen 1000Genomes |
|
|
CA8504717 rs771310864 |
46 | I>F | No |
ClinGen ExAC TOPMed |
|
|
rs771310864 CA290057067 |
46 | I>V | No |
ClinGen ExAC TOPMed |
|
|
rs371510564 CA8504716 |
47 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8504714 rs372726659 |
47 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371510564 CA8504715 |
47 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399134093 rs1234971895 |
50 | C>W | No |
ClinGen gnomAD |
|
|
CA399133998 rs1250981927 |
56 | G>* | No |
ClinGen TOPMed |
|
|
rs368478550 CA290057025 |
58 | G>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs368478550 CA399133958 |
58 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1416004400 CA399133907 |
61 | K>R | No |
ClinGen TOPMed |
|
|
rs1435128836 CA399133862 |
64 | I>T | No |
ClinGen gnomAD |
|
|
rs1390173158 CA399133858 |
65 | D>H | No |
ClinGen gnomAD |
|
|
rs1323189341 CA399133843 |
67 | K>E | No |
ClinGen gnomAD |
|
|
rs747820335 CA8504713 |
68 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173462633 CA399133805 |
69 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA399133708 rs1211608866 |
73 | C>Y | No |
ClinGen Ensembl |
|
|
rs1188034601 CA399133692 |
74 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA399133644 rs1463851112 |
77 | G>R | No |
ClinGen TOPMed |
|
|
CA399133629 rs1306491459 |
78 | Q>K | No |
ClinGen TOPMed |
|
|
CA399133524 rs1450224878 |
82 | T>N | No |
ClinGen gnomAD |
|
|
CA399133484 rs1249973955 |
84 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs375238739 CA8504712 |
87 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399133432 rs1441711119 |
89 | P>L | No |
ClinGen gnomAD |
|
|
CA399133426 CA399133425 rs1279068783 |
90 | S>* | No |
ClinGen gnomAD |
|
|
rs1201923446 CA399133423 |
91 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8504711 rs768054564 |
93 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs10512472 CA8504710 VAR_044177 |
93 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA290057003 rs988585407 |
95 | Y>* | No |
ClinGen Ensembl |
|
|
CA8504709 rs779907543 |
95 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA399133390 rs1366821953 |
96 | L>V | No |
ClinGen gnomAD |
|
|
CA399133381 rs1446480981 |
97 | D>E | No |
ClinGen gnomAD |
|
|
CA290056992 rs926177007 |
97 | D>G | No |
ClinGen TOPMed |
|
|
CA290056996 rs574216427 |
97 | D>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1340328325 CA399133366 |
99 | M>I | No |
ClinGen gnomAD |
|
|
CA290056987 rs1043615309 |
99 | M>V | No |
ClinGen TOPMed |
|
|
rs755942726 CA8504708 |
103 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1369075720 CA399133324 |
105 | L>H | No |
ClinGen gnomAD |
|
|
rs554274047 CA290056979 |
105 | L>I | No |
ClinGen 1000Genomes |
|
|
CA399133311 rs1392111906 |
107 | I>S | No |
ClinGen gnomAD |
|
|
rs1430627743 CA399133315 |
107 | I>V | No |
ClinGen gnomAD |
|
|
rs537835583 CA8504707 |
109 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs537835583 CA399133301 |
109 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA290056962 rs946321946 |
110 | K>R | No |
ClinGen TOPMed |
|
|
CA399133281 rs1472444166 |
112 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs181692308 CA290056959 |
114 | P>L | No |
ClinGen 1000Genomes |
|
|
CA399133253 rs1451502218 |
116 | V>I | No |
ClinGen TOPMed |
|
|
CA399133229 rs1481972713 |
119 | L>F | No |
ClinGen gnomAD |
|
|
CA290056955 rs953991541 |
120 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 122 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399133205 rs1287139250 |
123 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1287139250 CA399133203 |
123 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1227210431 CA399133190 |
125 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA399133182 rs1303642343 |
126 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8504704 rs538967367 COSM436409 |
127 | R>C | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA290056950 COSM3421452 rs899211648 |
127 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA399133177 rs899211648 |
127 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA290056954 rs538967367 |
127 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA290056949 rs1037647996 |
128 | S>A | No |
ClinGen Ensembl |
|
|
rs765357573 CA8504703 |
128 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA399133167 rs1160846325 |
129 | N>S | No |
ClinGen gnomAD |
|
|
CA8504702 rs373906466 |
131 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1163391239 CA399133146 |
132 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1163391239 CA399133148 |
132 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs199663871 CA8504701 |
132 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs866771401 CA290056939 |
133 | R>I | No |
ClinGen Ensembl |
|
|
CA399133133 rs1276416532 |
134 | D>E | No |
ClinGen TOPMed |
|
|
CA399133131 rs1311469862 |
135 | V>M | No |
ClinGen TOPMed |
|
|
CA399133104 rs1404889359 |
139 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1404889359 CA399133102 |
139 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA399133106 rs1162796519 |
139 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA290056919 rs1057317568 |
140 | N>S | No |
ClinGen TOPMed |
|
|
rs1165002272 CA399133089 |
141 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
rs189281314 CA8504699 |
142 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399133082 rs1471562948 |
142 | S>T | No |
ClinGen gnomAD |
|
|
CA399133068 rs1483852369 |
144 | S>I | No |
ClinGen gnomAD |
|
|
rs1193493173 CA399133067 |
144 | S>R | No |
ClinGen TOPMed |
|
|
CA399133058 rs1244576381 |
145 | S>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 146 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1220349171 CA399133052 |
146 | A>V | No |
ClinGen gnomAD |
|
|
CA8504697 rs777193911 |
154 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399132987 rs1235689958 |
156 | R>T | No |
ClinGen gnomAD |
|
|
CA399132973 rs1327614040 |
158 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1567717314 CA399132969 |
159 | R>G | No |
ClinGen Ensembl |
|
|
CA8504696 rs201410402 |
162 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201410402 CA399132946 |
162 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1442842183 CA399132938 CA399132939 |
163 | R>S | No |
ClinGen TOPMed |
|
|
rs1229341218 CA399132941 |
163 | R>T | No |
ClinGen gnomAD |
|
|
CA8504695 rs773940313 |
164 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA399132936 rs773940313 |
164 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1272804592 CA399132929 |
165 | K>T | No |
ClinGen TOPMed |
|
|
rs768191104 CA399132923 |
166 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768191104 CA8504694 |
166 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA290056881 rs758946550 |
168 | H>Y | No |
ClinGen Ensembl |
|
|
rs1436021692 CA399132902 |
169 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 169 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139678049 RCV000954161 RCV001818990 CA8504693 |
172 | V>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1207123733 CA399132881 |
172 | V>I | No |
ClinGen TOPMed |
|
|
rs1323551039 CA399132876 |
173 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA399132863 rs988449512 |
174 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1245306962 CA399132861 |
175 | R>* | No |
ClinGen TOPMed |
|
|
CA399132848 rs1159665352 |
176 | C>W | No |
ClinGen gnomAD |
|
|
CA399132837 rs1399580981 |
178 | Q>P | No |
ClinGen gnomAD |
|
|
CA399132821 rs1422767120 |
180 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8504692 rs779645675 |
180 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399132804 rs1190340801 |
182 | D>E | No |
ClinGen gnomAD |
|
|
CA290056873 rs1043238299 |
182 | D>V | No |
ClinGen TOPMed |
|
|
CA290056872 rs946177653 |
183 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs780550066 CA290056868 |
184 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 184 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290056859 rs550836312 |
190 | F>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA399132735 rs1268103718 |
192 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA290056855 rs530928485 |
193 | K>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs769806227 CA8504691 |
194 | D>E | No |
ClinGen ExAC |
|
|
rs745817627 CA8504690 |
197 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399132702 rs1299625175 |
197 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1368492752 CA399132692 |
198 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1368492752 CA399132690 |
198 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
CA290056850 rs758428017 |
204 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA399132621 rs1432932913 |
205 | T>I | No |
ClinGen gnomAD |
|
|
CA399132526 rs1390536740 |
211 | E>D | No |
ClinGen gnomAD |
|
|
rs1321187377 CA399132542 |
211 | E>K | No |
ClinGen gnomAD |
|
|
CA399132448 rs1459932053 |
216 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1357224803 CA399132435 |
216 | T>I | No |
ClinGen gnomAD |
|
|
CA399132411 rs1205914614 |
218 | K>R | No |
ClinGen TOPMed |
|
|
CA399132387 rs1433438336 |
219 | K>R | No |
ClinGen gnomAD |
|
|
rs1396455564 CA399132355 |
221 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 222 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8504689 rs781072040 |
222 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA399132332 rs757188030 |
223 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs565135389 CA8504688 |
223 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399132278 rs1187674559 |
226 | E>K | No |
ClinGen gnomAD |
|
|
CA399132222 rs1487104350 |
228 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 229 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1209806538 CA399132199 |
230 | H>Y | No |
ClinGen gnomAD |
|
|
CA290056794 rs184533427 |
232 | V>A | No |
ClinGen 1000Genomes gnomAD |
|
|
rs954048710 CA399132153 |
232 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA290056808 rs954048710 |
232 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs985086503 CA290056778 |
234 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs952495581 CA290056772 |
237 | N>H | No |
ClinGen TOPMed |
|
|
rs779049811 CA8504687 |
237 | N>S | No |
ClinGen ExAC |
|
|
CA399132002 rs1412868396 |
240 | G>E | No |
ClinGen TOPMed |
|
|
CA399132011 rs1161068251 |
240 | G>R | No |
ClinGen TOPMed |
|
|
rs1170173604 CA399131983 |
241 | G>V | No |
ClinGen TOPMed |
|
| TCGA novel | 243 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1376833074 CA399131935 |
244 | L>V | No |
ClinGen gnomAD |
|
|
rs559890215 CA8504686 |
249 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399131802 rs1466400680 |
250 | K>N | No |
ClinGen gnomAD |
|
|
rs1307542590 CA399131739 |
253 | E>G | No |
ClinGen TOPMed |
|
|
rs540019015 CA399131724 |
254 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8504685 rs540019015 |
254 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1428689204 CA399131663 |
257 | C>Y | No |
ClinGen gnomAD |
|
|
CA399131626 rs1390267753 |
259 | W>R | No |
ClinGen gnomAD |
|
|
rs919643845 CA290056757 |
262 | V>M | No |
ClinGen TOPMed |
|
|
CA399131519 rs1430842066 |
264 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1266461411 CA399131447 |
268 | K>Q | No |
ClinGen gnomAD |
|
| rs757176140 | 270 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM977979 rs866197946 CA290056753 |
272 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1203355989 CA399131274 |
275 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1257657278 CA399131254 |
276 | E>* | No |
ClinGen TOPMed |
|
| TCGA novel | 277 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1185043707 CA399131195 |
278 | L>F | No |
ClinGen TOPMed |
|
|
CA399131185 rs1567716651 |
279 | P>S | No |
ClinGen Ensembl |
|
|
CA290056750 rs548910949 |
280 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1597911012 CA399131145 |
281 | F>L | No |
ClinGen Ensembl |
|
|
rs759604136 CA290056747 |
282 | H>P | No |
ClinGen Ensembl |
|
|
CA290056745 rs1024802247 |
282 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA399131098 rs1319976216 |
283 | F>L | No |
ClinGen gnomAD |
|
|
rs745919611 CA290056743 |
284 | C>R | No |
ClinGen Ensembl |
|
|
CA399131061 rs1311971952 |
285 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA399131038 rs1396530397 |
286 | E>G | No |
ClinGen gnomAD |
|
|
rs2072659987 RCV001270498 |
287 | K>E | No |
ClinVar dbSNP |
|
|
CA8504680 rs767862801 |
289 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA399130912 rs1408845264 |
292 | F>L | No |
ClinGen gnomAD |
|
|
rs1174172269 CA399130904 |
292 | F>S | No |
ClinGen TOPMed |
|
|
CA290056731 rs778932655 |
293 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA399130874 rs1299408239 |
294 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 295 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290056727 rs886527539 |
296 | I>V | No |
ClinGen Ensembl |
|
|
CA399130780 rs1367348780 |
299 | V>A | No |
ClinGen gnomAD |
|
|
CA290056723 rs1036148354 |
303 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1316232662 CA399130687 |
304 | V>A | No |
ClinGen gnomAD |
|
|
CA8504679 rs762134696 |
304 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA399130683 rs1567716509 |
305 | L>V | No |
ClinGen Ensembl |
|
|
CA8504678 rs373500415 RCV001270544 |
306 | D>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1567716494 CA399130667 |
307 | G>D | No |
ClinGen Ensembl |
|
|
CA399130627 rs1228380345 |
313 | Q>* | No |
ClinGen TOPMed |
|
|
CA290056688 rs906063271 |
316 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1322039001 CA399130584 |
319 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs147396945 CA399130577 |
320 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147396945 CA8504677 |
320 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8504676 rs376875591 |
321 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 323 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290056654 rs904619027 |
325 | A>P | No |
ClinGen TOPMed |
|
|
rs1010302372 CA290056652 |
331 | M>T | No |
ClinGen TOPMed |
|
|
CA290056653 rs1022104166 |
331 | M>V | No |
ClinGen TOPMed |
|
|
CA290056651 rs947633544 |
334 | N>S | No |
ClinGen Ensembl |
|
|
rs1336773170 CA399130456 |
338 | R>Q | No |
ClinGen gnomAD |
|
|
CA8504675 rs373686913 |
338 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1052775415 CA290056629 |
342 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1227503703 CA399130416 |
344 | W>L | No |
ClinGen gnomAD |
|
|
rs1350863048 CA399130409 |
345 | V>A | No |
ClinGen gnomAD |
|
|
CA290056621 rs1041186991 |
346 | V>L | No |
ClinGen TOPMed |
|
|
rs1384714345 CA399130389 |
348 | M>T | No |
ClinGen gnomAD |
|
|
CA8504674 rs769436978 |
348 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA290056604 rs868799658 |
350 | D>H | No |
ClinGen Ensembl |
|
|
CA399130371 rs1293548257 |
351 | T>A | No |
ClinGen gnomAD |
|
|
CA399130364 rs1458007350 |
352 | Q>* | No |
ClinGen TOPMed |
|
|
CA8504672 rs193122123 |
354 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1187916565 CA399130331 |
355 | P>L | No |
ClinGen gnomAD |
|
|
CA8504652 rs764534525 |
355 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8504651 rs321613 |
356 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1286095424 CA399130320 |
357 | S>I | No |
ClinGen gnomAD |
|
|
rs1198462249 CA399130312 |
358 | L>F | No |
ClinGen gnomAD |
|
|
rs930262689 CA290055431 |
358 | L>M | No |
ClinGen TOPMed |
|
|
rs1343998395 CA399130304 |
360 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 361 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399130287 rs1280645540 |
362 | Y>C | No |
ClinGen gnomAD |
|
|
CA399130278 rs1456495811 |
363 | N>I | No |
ClinGen gnomAD |
|
|
rs368922921 CA399130276 |
363 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1362472271 CA399130271 |
364 | S>C | No |
ClinGen gnomAD |
|
|
rs1430648334 CA399130257 |
366 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1344604093 CA399130245 |
368 | S>* | No |
ClinGen gnomAD |
|
|
CA290055419 rs375810840 |
369 | S>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA290055416 rs989179732 |
370 | A>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 371 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399130192 rs1320717886 |
374 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA290055414 rs867952507 |
374 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8504649 rs370160814 |
376 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 376 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290055403 rs916246134 |
377 | P>S | No |
ClinGen Ensembl |
|
|
CA290055390 rs1028829142 |
378 | G>E | No |
ClinGen TOPMed |
|
|
rs759169256 CA8504648 |
378 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 380 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1445271966 CA399130064 |
383 | V>A | No |
ClinGen gnomAD |
|
|
CA399130066 rs1388416617 |
383 | V>I | No |
ClinGen gnomAD |
|
|
rs321612 CA399130041 |
385 | K>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs321612 VAR_044178 CA8504647 |
385 | K>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs963337693 CA290055386 |
387 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1224341149 CA399129988 |
388 | E>D | No |
ClinGen TOPMed |
|
|
CA399129971 rs1243820535 |
390 | L>P | No |
ClinGen gnomAD |
|
|
CA290055381 rs1016569515 |
391 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA399129960 rs1016569515 |
391 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1441695184 CA399129950 |
392 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1257946655 CA399129948 |
392 | R>Q | No |
ClinGen gnomAD |
|
|
CA399129937 rs1339550431 |
393 | H>Y | No |
ClinGen gnomAD |
|
|
rs1004783441 CA290055377 |
394 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA399129913 rs1214595485 |
395 | F>L | No |
ClinGen gnomAD |
|
|
CA290055374 rs1032188057 |
396 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 397 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399129228 rs1481881857 |
397 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA399129888 rs1340834426 |
397 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA8504641 rs184394938 |
398 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399129210 rs919934942 |
399 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA399129187 rs1439116675 |
399 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA290055005 rs919934942 |
399 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA399129194 rs1365934707 |
399 | Q>R | No |
ClinGen TOPMed |
|
|
rs78192414 CA8504640 |
400 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1334698186 CA399128988 |
407 | E>G | No |
ClinGen gnomAD |
|
|
CA8504639 rs531852698 |
408 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA290054989 rs182323303 |
408 | S>P | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1279256596 CA399128951 |
410 | C>R | No |
ClinGen gnomAD |
|
|
rs769834477 CA8504638 |
415 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1356366072 CA399128778 |
417 | H>R | No |
ClinGen gnomAD |
|
|
rs1276759647 CA399128708 |
420 | L>P | No |
ClinGen gnomAD |
|
|
rs1395063428 CA399128682 |
421 | E>V | No |
ClinGen gnomAD |
|
|
CA8504635 rs757648404 |
426 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA399128579 rs190500366 |
426 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs190500366 CA8504634 |
426 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 427 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399128564 rs1244556317 |
427 | L>V | No |
ClinGen TOPMed |
|
|
rs1177485595 CA399128543 |
428 | I>K | No |
ClinGen gnomAD |
|
|
rs1177485595 CA399128541 |
428 | I>T | No |
ClinGen gnomAD |
|
|
CA399128530 rs1488045520 |
429 | H>N | No |
ClinGen TOPMed |
|
|
rs778000386 CA8504633 |
429 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA290054966 rs904083545 |
432 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1001133275 CA290054969 |
432 | S>T | No |
ClinGen Ensembl |
|
|
rs1244483553 CA399128423 |
434 | G>E | No |
ClinGen gnomAD |
|
|
rs558082496 CA8504632 |
435 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399128376 rs1156989700 |
436 | V>A | No |
ClinGen TOPMed |
|
|
CA399128380 rs1468448901 |
436 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA399128383 rs1468448901 |
436 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA290054953 rs763488915 |
437 | I>M | No |
ClinGen Ensembl |
|
|
rs1274390763 CA399128304 |
440 | R>G | No |
ClinGen gnomAD |
|
|
CA8504631 rs752378546 |
442 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA290054946 rs760429374 |
443 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA399128184 rs1405957828 |
444 | G>V | No |
ClinGen TOPMed |
|
|
rs1348306124 CA399128075 |
449 | R>S | No |
ClinGen TOPMed |
|
|
CA8504630 rs79007502 |
450 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs572233110 CA399128007 |
452 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA290054930 rs925271419 |
453 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
RCV000503461 rs753345092 CA8504628 |
453 | N>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA399127946 rs1339426112 |
455 | L>P | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 456 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399127905 rs978178512 |
457 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA399127827 rs1229483295 |
461 | I>M | No |
ClinGen TOPMed |
|
|
CA399127706 rs1402118713 |
466 | P>L | No |
ClinGen gnomAD |
|
|
rs369307237 CA8504627 |
466 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA399127724 rs369307237 |
466 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs919139903 CA290054911 |
467 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1192599019 CA399127587 |
473 | L>V | No |
ClinGen gnomAD |
|
|
rs1473179577 CA399127549 |
474 | I>T | No |
ClinGen TOPMed |
|
|
rs767925346 CA290054889 |
474 | I>V | No |
ClinGen gnomAD |
|
|
rs879704702 RCV000494664 CA290054888 |
476 | P>R | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA290054884 rs374393199 |
477 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1260535082 CA399127362 |
478 | W>C | No |
ClinGen gnomAD |
|
|
rs1159138883 CA399127313 |
480 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1159138883 CA399127311 |
480 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs192498365 CA8504623 |
486 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA290054879 rs535173406 |
486 | R>Q | No |
ClinGen 1000Genomes TOPMed |
|
|
CA290054875 rs373881705 |
488 | T>I | No |
ClinGen Ensembl |
|
|
CA399127032 rs1276823014 |
489 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 490 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs569712196 CA8504622 |
491 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs374884088 CA290054865 |
494 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs374884088 CA8504621 |
494 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs2072613042 RCV001270497 |
494 | Q>R | No |
ClinVar dbSNP |
|
|
rs1025983515 CA290054860 |
499 | V>I | No |
ClinGen TOPMed |
|
|
rs992274832 CA290054856 |
500 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs992274832 CA290054853 |
500 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs770097150 CA290054849 |
503 | T>K | No |
ClinGen Ensembl |
|
|
rs1361139752 CA399126462 |
504 | G>A | No |
ClinGen gnomAD |
|
|
rs959416889 CA290054845 |
505 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA290054840 rs1033868231 |
506 | V>A | No |
ClinGen TOPMed |
|
|
rs1357204221 CA399126358 |
507 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA399126247 rs1235848887 |
509 | I>T | No |
ClinGen gnomAD |
|
|
CA399126078 rs1434885592 |
514 | H>Y | No |
ClinGen gnomAD |
|
|
CA399125999 rs1396364836 |
515 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA8504619 rs781066799 |
517 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427281045 CA399125896 |
518 | T>R | No |
ClinGen gnomAD |
|
|
rs556021028 CA290054824 |
520 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA290054823 rs948556725 |
521 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1054405108 CA290054818 |
526 | P>H | No |
ClinGen TOPMed |
|
|
CA8504618 rs142381768 |
526 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 527 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8504617 rs147826084 |
528 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1010232720 CA290054811 |
529 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1306974354 CA399125477 |
531 | R>S | No |
ClinGen gnomAD |
|
|
rs1170365810 CA399125382 |
534 | R>S | No |
ClinGen TOPMed |
|
|
rs1426540521 CA399125361 |
535 | L>F | No |
ClinGen TOPMed |
|
|
CA399125315 rs1376714552 |
536 | A>D | No |
ClinGen gnomAD |
|
|
rs901531619 CA399125343 |
536 | A>S | No |
ClinGen gnomAD |
|
|
rs901531619 CA290054794 |
536 | A>T | No |
ClinGen gnomAD |
|
|
CA399125276 rs1311970185 |
537 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1567712266 CA399125233 |
538 | E>D | No |
ClinGen Ensembl |
|
|
rs1415049857 CA399125251 |
538 | E>K | No |
ClinGen gnomAD |
|
|
rs758808409 CA8504615 |
542 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1461079869 CA399124967 |
543 | D>E | No |
ClinGen gnomAD |
|
|
rs1358072848 CA399124948 |
544 | L>S | No |
ClinGen TOPMed |
|
|
CA399124708 rs1416152863 |
551 | V>A | No |
ClinGen gnomAD |
|
|
rs1430754873 CA399124718 |
551 | V>F | No |
ClinGen gnomAD |
|
|
CA290054785 rs978022859 |
552 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1194271245 CA399124650 |
553 | L>R | No |
ClinGen gnomAD |
|
|
CA399124347 rs1319806610 |
562 | Q>H | No |
ClinGen gnomAD |
|
|
rs923359585 CA290054779 |
563 | M>V | No |
ClinGen TOPMed |
|
|
CA8504613 rs779438089 |
564 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA8504611 rs765800230 |
565 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8504612 rs188331269 |
565 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA399124150 rs1390456509 |
569 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA399124094 rs1299328471 |
571 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA8504607 rs767530083 |
572 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374441031 CA8504606 |
573 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA290054768 rs964937992 |
577 | Q>R | No |
ClinGen TOPMed |
|
|
rs1420452720 CA399123894 |
578 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA399123880 rs1179938710 |
579 | L>F | No |
ClinGen gnomAD |
|
|
CA8504605 rs774077449 |
579 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 581 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763883083 CA8504604 |
581 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1467170319 CA399123742 |
584 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs759752507 CA8504603 |
584 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA399123708 rs1336760590 |
585 | K>R | No |
ClinGen gnomAD |
|
|
rs1036320102 CA290054756 |
587 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA290054755 COSM977975 rs949995979 |
587 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA290054751 rs748829993 |
591 | I>T | No |
ClinGen Ensembl |
|
|
rs568286589 CA290054749 |
595 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs917938229 CA290054743 |
600 | T>P | No |
ClinGen gnomAD |
|
|
CA399123308 rs1597905951 |
601 | A>P | No |
ClinGen Ensembl |
|
|
CA399123312 rs1597905951 |
601 | A>T | No |
ClinGen Ensembl |
|
|
rs1157146263 CA399123256 |
603 | A>T | No |
ClinGen gnomAD |
|
|
COSM977974 CA399123192 rs548738045 |
605 | K>N | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA8504598 rs772654791 |
605 | K>R | No |
ClinGen ExAC |
|
|
rs1404744934 CA399123154 |
607 | M>I | No |
ClinGen gnomAD |
|
|
CA8504596 rs371110673 |
607 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA290054729 rs992137124 |
607 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM1382507 rs755459810 CA8504595 |
608 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1252446941 CA399123104 |
610 | I>S | No |
ClinGen gnomAD |
|
|
rs1469717934 CA399123020 |
616 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA399122979 rs1259424677 |
618 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs369249980 CA8504593 |
618 | P>T | No |
ClinGen ESP ExAC TOPMed |
|
|
CA399122962 rs1453706986 |
619 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA290054716 rs952235245 |
620 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA399122952 rs1567711824 |
620 | E>G | No |
ClinGen Ensembl |
|
|
rs1246678796 CA399122936 |
621 | I>N | No |
ClinGen TOPMed |
|
|
rs755547705 CA8504592 |
623 | Y>C | No |
ClinGen ExAC |
|
|
rs541898258 CA399122824 |
627 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8504589 rs757122014 |
628 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 631 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751565713 CA8504588 |
631 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1442316462 CA399122732 |
632 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA399122671 rs1373783660 |
634 | V>M | No |
ClinGen gnomAD |
|
|
rs1457561956 CA399129111 |
639 | T>I | No |
ClinGen TOPMed |
|
|
rs1185485207 CA399129100 |
640 | C>R | No |
ClinGen gnomAD |
|
|
CA399129018 rs1161167639 |
644 | T>A | No |
ClinGen TOPMed |
|
|
rs1257853103 CA399129001 |
645 | R>G | No |
ClinGen gnomAD |
|
|
CA399128986 rs1391070058 |
645 | R>S | No |
ClinGen TOPMed |
|
|
CA290087326 rs894494340 |
647 | T>I | No |
ClinGen gnomAD |
|
|
rs1435640000 CA399128910 |
649 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA290087315 rs969069950 |
650 | Q>P | No |
ClinGen TOPMed |
|
|
CA399128856 rs1271600754 |
652 | E>V | No |
ClinGen gnomAD |
|
|
rs1195748437 CA399128791 |
655 | K>T | No |
ClinGen gnomAD |
|
|
CA290087314 rs1022098305 |
656 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1280522618 CA399128741 |
658 | H>P | No |
ClinGen gnomAD |
|
|
CA399128712 rs1032983362 |
659 | I>M | No |
ClinGen gnomAD |
|
|
rs1294194369 CA399128706 |
660 | V>L | No |
ClinGen gnomAD |
|
|
CA399128674 rs1450456985 |
661 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs779637675 CA290087285 |
663 | E>K | No |
ClinGen Ensembl |
|
|
CA290087275 rs1041875296 |
664 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA290087259 rs1031366296 |
666 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA8504570 rs573862627 |
669 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1460782081 CA399128501 |
670 | K>Q | No |
ClinGen gnomAD |
|
|
rs901347518 CA290087254 |
671 | Y>C | No |
ClinGen Ensembl |
|
|
rs1418304587 CA399128440 |
672 | G>D | No |
ClinGen gnomAD |
|
|
rs1040389296 CA290087235 |
674 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs557012724 CA290087220 |
680 | N>S | No |
ClinGen 1000Genomes |
|
|
rs187022223 CA8504569 |
682 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 685 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA290087217 rs909558471 |
686 | A>T | No |
ClinGen Ensembl |
|
|
rs571469248 CA290087216 |
686 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA399128065 rs1439011020 |
691 | S>N | No |
ClinGen gnomAD |
|
|
rs1260599917 CA399128056 |
692 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 696 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1334683450 CA399127948 |
698 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1334683450 CA399127953 |
698 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA399127898 rs1274121950 |
700 | W>L | No |
ClinGen gnomAD |
|
|
CA399127849 rs1371410709 |
703 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs899887500 CA290087200 |
707 | Q>E | No |
ClinGen TOPMed |
|
|
CA399127760 rs1567707820 |
707 | Q>R | No |
ClinGen Ensembl |
|
|
rs758797511 CA290087193 |
710 | H>R | No |
ClinGen Ensembl |
|
|
rs764063019 CA399127692 |
711 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764063019 CA8504568 COSM1382505 |
711 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1597901464 CA399127665 |
712 | D>Y | No |
ClinGen Ensembl |
|
|
CA399127644 rs1379194857 |
713 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA290087189 rs557846732 |
714 | N>S | No |
ClinGen 1000Genomes TOPMed |
|
|
CA8504566 rs758302612 |
715 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA399127557 rs1166590404 |
717 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA399127567 rs1394959712 |
717 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 718 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1398625955 CA399127514 |
718 | P>L | No |
ClinGen gnomAD |
|
|
rs887268576 CA290087170 |
719 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1248975691 CA399127420 |
721 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA290087149 rs981857304 |
722 | Q>R | No |
ClinGen gnomAD |
|
|
CA8504561 rs534722902 |
724 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA399127268 rs1254040475 |
725 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA8504560 rs565511248 |
725 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 728 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8504559 rs376709711 |
731 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399127033 rs1567707650 |
732 | I>M | No |
ClinGen Ensembl |
|
|
CA399127063 rs1355954643 |
732 | I>V | No |
ClinGen gnomAD |
|
|
CA399127022 rs1301267830 |
733 | H>Y | No |
ClinGen gnomAD |
|
|
CA290087085 rs957956113 |
734 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs957956113 CA399126985 |
734 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1371589506 CA399126970 |
734 | C>Y | No |
ClinGen gnomAD |
|
|
CA399126954 rs1295186195 |
735 | A>S | No |
ClinGen gnomAD |
|
|
rs372213109 CA290087066 |
736 | L>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs548942825 CA8504558 |
739 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1421067812 CA399126802 |
740 | K>N | No |
ClinGen gnomAD |
|
|
CA399126758 rs1171031762 |
742 | M>L | No |
ClinGen TOPMed |
|
|
rs1000117842 CA290087049 |
742 | M>T | No |
ClinGen Ensembl |
|
|
CA399126759 rs1171031762 |
742 | M>V | No |
ClinGen TOPMed |
|
|
COSM3421449 CA399126701 rs1392734933 |
744 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA290087035 rs915017541 |
746 | M>I | No |
ClinGen TOPMed |
|
|
rs570319598 CA8504556 |
749 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs956783290 CA290087018 |
752 | N>Y | No |
ClinGen TOPMed |
|
|
rs763384352 CA8504555 |
753 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399126260 rs1441598590 |
754 | P>L | No |
ClinGen gnomAD |
|
|
CA399126255 rs1230055641 |
755 | S>P | No |
ClinGen TOPMed |
|
|
CA290087009 rs1020364998 |
756 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1200786030 CA399126215 |
756 | N>S | No |
ClinGen TOPMed |
|
|
CA399126232 rs1020364998 |
756 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1241824871 CA399126190 |
757 | M>L | No |
ClinGen gnomAD |
|
|
CA399126196 rs1241824871 |
757 | M>V | No |
ClinGen gnomAD |
|
|
rs1216791801 CA399125964 |
764 | L>S | No |
ClinGen gnomAD |
|
|
CA399125922 rs1444292625 |
766 | S>G | No |
ClinGen TOPMed |
|
|
CA8504554 rs775856700 |
766 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA8504552 rs745522875 |
767 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs745522875 CA8504553 COSM3819347 |
767 | E>K | breast [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1348656454 CA399125803 |
769 | A>D | No |
ClinGen gnomAD |
|
|
CA290086970 rs901350764 |
769 | A>S | No |
ClinGen Ensembl |
|
|
CA8504551 rs78364481 |
770 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1466032433 CA399125728 |
771 | E>D | No |
ClinGen Ensembl |
|
| TCGA novel | 772 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371813679 CA8504550 |
773 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8504549 rs746486418 |
774 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373196765 CA399125641 |
776 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs996824884 CA290086925 |
776 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1311878397 CA399125634 |
777 | Q>K | No |
ClinGen gnomAD |
|
|
rs1360386785 CA399125586 |
778 | A>D | No |
ClinGen gnomAD |
|
|
CA399125583 rs1360386785 |
778 | A>G | No |
ClinGen gnomAD |
|
|
CA290086879 rs899814437 |
781 | G>V | No |
ClinGen TOPMed |
|
|
CA399125451 rs1419278485 |
782 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1194792609 CA399125400 |
784 | E>K | No |
ClinGen gnomAD |
|
|
rs1017057824 CA290086871 |
784 | E>V | No |
ClinGen TOPMed |
|
| TCGA novel | 785 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1048671828 CA290086870 |
787 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA399125197 rs1483657458 |
790 | T>P | No |
ClinGen gnomAD |
|
|
rs777290921 CA8504548 |
793 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA399125032 rs1294816728 |
794 | I>T | No |
ClinGen TOPMed |
|
|
rs1202370184 CA399125001 |
796 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1352472802 CA399124961 |
797 | Y>S | No |
ClinGen Ensembl |
|
|
rs1306794749 CA399124924 |
798 | V>G | No |
ClinGen gnomAD |
|
|
CA399124941 rs1194784656 |
798 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA399124833 rs1439648456 |
802 | C>R | No |
ClinGen gnomAD |
|
|
rs1342607107 CA399124751 |
804 | S>T | No |
ClinGen TOPMed |
|
|
rs1047188482 CA290086842 |
806 | F>S | No |
ClinGen TOPMed |
|
|
CA399124661 rs1004210723 |
807 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA8504545 rs564352461 |
807 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA290086817 rs368097391 |
815 | I>T | No |
ClinGen ESP gnomAD |
|
|
CA399124451 rs754784029 |
816 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs754784029 CA8504544 |
816 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA290086813 rs906771060 |
819 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1597900886 CA399124394 |
819 | C>Y | No |
ClinGen Ensembl |
|
|
CA399124191 rs1414950374 |
826 | G>E | No |
ClinGen gnomAD |
|
|
CA8504542 rs182416283 |
827 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs562073297 CA8504541 |
827 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA290086796 rs916416052 |
828 | Y>* | No |
ClinGen gnomAD |
|
|
rs1234868082 CA399124141 |
828 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs914901633 CA290086787 |
829 | R>T | No |
ClinGen TOPMed |
|
|
rs542195109 CA8504540 |
830 | L>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1597900811 CA399124052 |
831 | A>S | No |
ClinGen Ensembl |
|
|
rs1458516353 CA399124012 |
833 | L>V | No |
ClinGen TOPMed |
|
|
rs1416138245 CA399123989 |
834 | K>R | No |
ClinGen gnomAD |
|
|
rs1187501053 CA399123972 |
835 | A>T | No |
ClinGen gnomAD |
|
|
CA399123854 rs1383636100 |
839 | I>T | No |
ClinGen TOPMed |
|
|
rs1305467569 CA399123865 |
839 | I>V | No |
ClinGen Ensembl |
|
|
CA399123842 rs1303302292 |
840 | E>K | No |
ClinGen TOPMed |
|
|
rs764274748 CA8504539 |
841 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1222642478 CA399123771 |
843 | R>G | No |
ClinGen TOPMed |
|
|
rs1288786642 CA399123741 |
844 | P>S | No |
ClinGen TOPMed |
|
|
CA399123645 rs1175512296 |
848 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA8504537 rs375612069 |
851 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375612069 CA399123571 |
851 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA290086744 rs766764496 |
851 | P>S | No |
ClinGen Ensembl |
|
|
rs925257287 CA290086730 |
854 | G>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 855 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1413187509 CA399123496 |
855 | V>I | No |
ClinGen TOPMed |
|
|
rs1373411196 CA399123411 |
858 | S>I | No |
ClinGen gnomAD |
|
|
CA8504533 rs759860271 |
859 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA399123395 rs1332707602 |
859 | H>Y | No |
ClinGen gnomAD |
|
|
CA399123354 rs1457950739 |
860 | I>M | No |
ClinGen TOPMed |
|
|
rs1294817674 CA399123209 |
867 | Q>K | No |
ClinGen TOPMed |
|
|
rs1164595352 CA399123197 |
867 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1164595352 CA399123193 |
867 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA290086720 rs974643639 |
870 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
VAR_044179 CA290086721 rs1350011 |
870 | G>S | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1370457368 CA399123094 |
873 | R>T | No |
ClinGen gnomAD |
|
|
rs1016942125 CA290086707 |
874 | T>I | No |
ClinGen TOPMed |
|
|
CA290086703 rs1006051665 |
875 | V>A | No |
ClinGen TOPMed |
|
|
rs1226424877 CA399123072 |
875 | V>F | No |
ClinGen TOPMed |
|
|
CA290086700 rs977975483 |
876 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1174696553 CA399123047 |
877 | F>S | No |
ClinGen gnomAD |
|
|
rs1467046895 CA399123025 |
879 | L>F | No |
ClinGen gnomAD |
|
|
rs1350010 CA290086691 VAR_044180 |
880 | S>I | No |
ClinGen UniProt Ensembl dbSNP |
|
| TCGA novel | 883 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770525213 CA8504531 |
886 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA399122914 rs1489989414 |
887 | E>A | No |
ClinGen TOPMed |
|
| TCGA novel | 888 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA399122841 rs1237869706 |
891 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA399122820 rs1252907350 |
893 | C>R | No |
ClinGen TOPMed |
|
|
CA399122764 rs1026251495 |
895 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA290086667 rs1026251495 |
895 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA399122776 rs1353803406 |
895 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
RCV001270496 rs2072550081 |
896 | S>P | No |
ClinVar dbSNP |
|
|
CA290086660 rs754360448 |
897 | R>G | No |
ClinGen TOPMed |
|
|
CA399122694 RCV000522894 rs1555547134 |
898 | A>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs777192968 CA8504529 |
899 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs142714243 CA8504528 |
902 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1325782402 CA399122570 |
902 | L>P | No |
ClinGen gnomAD |
|
|
CA8504527 VAR_044181 rs9907259 |
905 | L>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1423851332 CA399122497 |
906 | Y>C | No |
ClinGen TOPMed |
|
|
rs1567706637 CA399122385 |
911 | A>V | No |
ClinGen Ensembl |
|
|
CA8504525 VAR_044182 rs8073060 |
912 | Y>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs534841071 CA290086640 |
913 | Y>R | No |
ClinGen 1000Genomes TOPMed |
1 associated diseases with P0C7P3
[MIM: 616913]: Bleeding disorder, platelet-type, 20 (BDPLT20)
A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. BDPLT20 is characterized by moderate thrombocytopenia and platelet secretion defects. Inheritance is autosomal dominant. {ECO:0000269|PubMed:26280575, ECO:0000269|PubMed:26769223}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. BDPLT20 is characterized by moderate thrombocytopenia and platelet secretion defects. Inheritance is autosomal dominant. {ECO:0000269|PubMed:26280575, ECO:0000269|PubMed:26769223}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for P0C7P3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Schlafen, AlbA_2 domain | 206 - 321 | IPR007421 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| endoribonuclease activity | Catalysis of the hydrolysis of ester linkages within ribonucleic acid by creating internal breaks. |
| ribosome binding | Binding to a ribosome. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to magnesium ion | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a magnesium ion stimulus. |
| cellular response to manganese ion | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a manganese ion stimulus. |
| mRNA catabolic process | The chemical reactions and pathways resulting in the breakdown of mRNA, messenger RNA, which is responsible for carrying the coded genetic 'message', transcribed from DNA, to sites of protein assembly at the ribosomes. |
| platelet maturation | A developmental process, independent of morphogenetic (shape) change, that is required for a platelet to attain its fully functional state. A platelet is a non-nucleated disk-shaped cell formed by extrusion from megakaryocytes, found in the blood of all mammals, and mainly involved in blood coagulation. |
| RNA phosphodiester bond hydrolysis, endonucleolytic | The chemical reactions and pathways involving the hydrolysis of internal 3',5'-phosphodiester bonds in one or two strands of ribonucleotides. |
| rRNA catabolic process | The chemical reactions and pathways resulting in the breakdown of rRNA, ribosomal RNA, a structural constituent of ribosomes. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q7Z7L1 | SLFN11 | Schlafen family member 11 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MESLKTDTEM | PYPEVIVDVG | RVIFGEENRK | KMTNSCLKRS | ENSRIIRAIC | ALLNSGGGVI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KAEIDDKTYS | YQCHGLGQDL | ETSFQKLLPS | GSQKYLDYMQ | QGHNLLIFVK | SWSPDVFSLP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LRICSLRSNL | YRRDVTSAIN | LSASSALELL | REKGFRAQRG | RPRVKKLHPQ | QVLNRCIQEE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EDMRILASEF | FKKDKLMYKE | KLNFTESTHV | EFKRFTTKKV | IPRIKEMLPH | YVSAFANTQG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GYVLIGVDDK | SKEVVGCKWE | KVNPDLLKKE | IENCIEKLPT | FHFCCEKPKV | NFTTKILNVY |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QKDVLDGYVC | VIQVEPFCCV | VFAEAPDSWI | MKDNSVTRLT | AEQWVVMMLD | TQSAPPSLVT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DYNSCLISSA | SSARKSPGYP | IKVHKFKEAL | QRHLFPVTQE | EVQFKPESLC | KKLFSDHKEL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EGLMKTLIHP | CSQGIVIFSR | SWAGDVGFRK | EQNVLCDALL | IAVNSPVVLY | TILIDPNWPG |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GLEYARNTAH | QLKQKLQTVG | GYTGKVCIIP | RLIHLSSTQS | RPGEIPLRYP | RSYRLADEEE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| MEDLLQALVV | VSLSSRSLLS | DQMGCEFFNL | LIMEQSQLLS | ESLQKTRELF | IYCFPGVRKT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ALAIKIMEKI | KDLFHCKPKE | ILYVCESDSL | KDFVTQQTTC | QAVTRKTFMQ | GEFLKIKHIV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| MDETENFCSK | YGNWYMKAKN | ITHPKAKGTG | SENLHHGILW | LFLDPFQIHH | ADVNGLPPPS |
| 730 | 740 | 750 | 760 | 770 | 780 |
| AQFPRKTITS | GIHCALEIAK | VMKEEMKRIK | ENPPSNMSPD | TLALFSETAY | EEATCAQALP |
| 790 | 800 | 810 | 820 | 830 | 840 |
| GVCETKTNLT | TEQIANYVAR | KCHSLFQCGY | LPKDIAILCR | RGEDRGRYRL | ALLKAMELIE |
| 850 | 860 | 870 | 880 | 890 | 900 |
| THRPSEVVFS | PATGVWGSHI | VLDSIQQFSG | LERTVVFGLS | PECDQSEEFH | KLCFASRAIK |
| 910 | |||||
| HLYLLYEKRA | AY |