Q9HCJ2
PR
Gene name |
LRRC4C (KIAA1580, NGL1, UNQ292/PRO331) |
Protein name |
Leucine-rich repeat-containing protein 4C |
Names |
Netrin-G1 ligand, NGL-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57689 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for Q9HCJ2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3ZYJ | X-ray | 325 A | A/C | 44-444 | PDB |
| AF-Q9HCJ2-F1 | Predicted | AlphaFoldDB |
424 variants for Q9HCJ2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs144974170 CA5951103 |
3 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 6 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380409616 rs1251366692 |
6 | T>I | No |
ClinGen gnomAD |
|
|
CA5951102 rs769748721 |
8 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA380409576 rs1464218275 |
8 | H>Q | No |
ClinGen TOPMed |
|
|
CA380409589 rs1590408072 |
8 | H>Y | No |
ClinGen Ensembl |
|
|
rs1460181110 CA380409557 |
9 | P>L | No |
ClinGen gnomAD |
|
|
CA221119810 rs373784981 |
12 | I>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5951099 rs373784981 COSM926847 |
12 | I>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1475413 rs751225355 CA5951098 |
14 | I>T | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs72885369 COSM388295 CA5951097 |
15 | G>S | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA380409272 rs1404976668 |
23 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA380409247 rs1336481991 |
24 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 24 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs905542666 CA221119808 |
25 | P>A | No |
ClinGen TOPMed |
|
|
rs1450656731 CA380409208 |
25 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 26 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1427718063 CA380409183 |
27 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 29 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1399283486 CA380409153 |
29 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA380409133 rs1364422501 |
30 | L>V | No |
ClinGen gnomAD |
|
|
rs1242834116 CA380409091 |
32 | A>G | No |
ClinGen gnomAD |
|
|
rs1442991152 CA380409101 |
32 | A>P | No |
ClinGen gnomAD |
|
|
CA380409078 rs1204548394 |
33 | L>F | No |
ClinGen gnomAD |
|
|
CA5951091 rs201688769 |
34 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1352348534 CA380409033 |
35 | L>F | No |
ClinGen TOPMed |
|
|
CA221119806 rs949782090 |
37 | V>L | No |
ClinGen TOPMed |
|
|
rs1287917699 CA380408961 |
39 | A>P | No |
ClinGen TOPMed |
|
|
rs1204438169 CA380408953 |
40 | G>S | No |
ClinGen gnomAD |
|
|
rs1590407617 CA380408905 |
42 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 42 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5951087 rs141998335 |
43 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5951088 rs767793951 |
43 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 44 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5951086 rs774449600 |
45 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA380408864 rs1454271046 |
46 | T>A | No |
ClinGen gnomAD |
|
|
CA380408866 rs1454271046 |
46 | T>P | No |
ClinGen gnomAD |
|
|
rs769691883 CA221119804 COSM1703827 |
48 | P>S | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5951085 rs769691883 |
48 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA5951084 rs748135607 |
50 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1422749318 CA380408677 |
56 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 56 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380408673 rs267602874 |
57 | F>I | No |
ClinGen gnomAD |
|
|
CA221119803 rs267602874 |
57 | F>L | No |
ClinGen gnomAD |
|
|
rs1184387510 CA380408665 |
57 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 58 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA221119802 rs973572486 |
61 | I>T | No |
ClinGen Ensembl |
|
|
CA221119801 rs1052929940 |
63 | V>I | No |
ClinGen TOPMed |
|
|
rs746822718 CA5951081 |
64 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5951082 rs768399802 |
64 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1590407313 CA380408502 |
65 | K>T | No |
ClinGen Ensembl |
|
| TCGA novel | 66 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA221119800 rs935845797 |
67 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA380408454 rs1286179478 COSM926846 |
68 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA5951080 rs779510618 |
68 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347112092 CA380408394 |
71 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 74 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745329871 CA5951078 |
74 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1430541230 CA380408331 |
75 | S>F | No |
ClinGen gnomAD |
|
|
CA380408316 rs1426551603 |
78 | T>A | No |
ClinGen TOPMed |
|
|
CA380408313 rs1327390850 |
78 | T>I | No |
ClinGen gnomAD |
|
|
COSM255872 CA5951074 rs764669607 |
79 | R>Q | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA5951075 rs754463669 |
79 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA380408304 rs1164339334 |
80 | L>P | No |
ClinGen gnomAD |
|
|
CA380408303 rs1164339334 |
80 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 81 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1167561312 CA380408243 |
89 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 89 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756376159 CA5951073 |
90 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs954154310 CA221119798 |
93 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1265097221 CA380408213 |
93 | V>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 94 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380408202 rs1430429291 COSM3935459 |
95 | S>R | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1490178522 CA380408186 |
97 | K>Q | No |
ClinGen gnomAD |
|
|
CA380408165 rs1307713082 |
99 | L>F | No |
ClinGen TOPMed |
|
|
CA380408158 CA380408157 rs2953310 |
100 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA380408147 rs1305396239 |
102 | L>V | No |
ClinGen gnomAD |
|
|
CA5951068 rs766507191 |
108 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 113 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 114 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 117 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 117 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1367974573 CA380408030 |
118 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 119 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 121 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1565003513 CA380408010 |
121 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 122 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 124 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA221119796 rs558651997 |
124 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs372499944 CA5951065 |
124 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 127 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380407935 rs1410776774 |
132 | F>L | No |
ClinGen gnomAD |
|
|
rs775386203 CA5951063 |
133 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380407923 rs1416639301 |
134 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA221119795 rs865871663 |
135 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 137 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 137 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380407893 rs1590406671 |
139 | I>T | No |
ClinGen Ensembl |
|
|
rs183119791 CA5951062 |
139 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 140 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380407870 rs1231833478 |
143 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA380407852 rs1458845264 |
145 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 145 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380407854 rs1204727596 |
145 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5951059 rs756761523 |
149 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380407776 rs1323279700 COSM232722 |
156 | R>Q | lung skin Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 158 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380407753 rs1192331344 |
159 | P>L | No |
ClinGen TOPMed |
|
|
CA5951057 rs778093187 |
160 | I>T | No |
ClinGen ExAC |
|
| TCGA novel | 164 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 168 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380407646 rs1297725392 |
175 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs767978305 CA5951054 |
175 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA380407648 rs1297725392 |
175 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1394680745 COSM1703826 CA380407642 |
176 | R>* | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1402806748 CA380407640 |
176 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs368452298 CA380407638 |
177 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 187 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1240810554 CA380407518 |
194 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 195 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 198 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5951047 COSM688200 rs376385641 |
200 | R>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 204 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775124868 CA5951046 COSM542632 CA380407431 |
206 | M>I | Variant assessed as Somatic; impact. lung [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs141061556 CA221119790 COSM107414 |
208 | N>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA5951044 rs367953879 |
210 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380407408 rs367953879 |
210 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5951045 rs568747706 |
210 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA221119787 rs200932062 |
211 | E>G | No |
ClinGen 1000Genomes |
|
|
CA221119788 rs867956688 |
211 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA380407397 rs1211295886 |
212 | I>N | No |
ClinGen TOPMed |
|
|
CA380407392 rs1241041822 |
213 | P>S | No |
ClinGen gnomAD |
|
|
rs375080235 CA5951042 COSM1353756 |
217 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs375080235 CA5951041 |
217 | P>Q | Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1379209428 CA380407365 |
217 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA380407353 rs1304411454 |
219 | I>K | No |
ClinGen gnomAD |
|
|
CA221119784 rs769728836 |
226 | L>F | No |
ClinGen gnomAD |
|
|
CA221119785 rs769728836 |
226 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 226 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 228 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1182556502 CA380407264 |
232 | S>F | No |
ClinGen gnomAD |
|
|
rs190972515 CA5951036 |
233 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 243 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5951034 rs373740831 |
244 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380407172 rs1355880344 |
246 | Q>P | No |
ClinGen gnomAD |
|
|
rs1289719968 CA380407153 |
249 | W>R | No |
ClinGen gnomAD |
|
|
CA380407139 rs1245478778 |
250 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs758646539 CA5951032 COSM688203 |
251 | I>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1314592573 CA380407101 |
256 | Q>K | No |
ClinGen gnomAD |
|
|
CA5951031 rs750437424 |
257 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs760514279 CA380407071 |
260 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1507845 CA5951029 rs760514279 |
260 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM3764301 rs765406670 CA5951030 |
260 | R>W | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1246324758 CA380407057 |
262 | A>V | No |
ClinGen TOPMed |
|
|
rs1363134454 CA380407047 |
264 | D>N | No |
ClinGen gnomAD |
|
|
CA380407048 rs1363134454 |
264 | D>Y | No |
ClinGen gnomAD |
|
|
rs1590405647 CA380407040 |
265 | N>H | No |
ClinGen Ensembl |
|
|
CA380407032 rs1162430839 |
265 | N>K | No |
ClinGen gnomAD |
|
|
rs148175959 CA5951028 |
270 | V>A | No |
ClinGen ESP ExAC |
|
|
rs767576838 CA5951027 |
271 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA380406988 rs1270436149 |
272 | I>M | No |
ClinGen TOPMed |
|
| TCGA novel | 275 | A>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380406973 rs1167879704 |
275 | A>T | No |
ClinGen gnomAD |
|
|
rs1427044630 CA380406965 |
276 | H>R | No |
ClinGen gnomAD |
|
|
CA380406944 rs1261496084 |
279 | L>I | No |
ClinGen gnomAD |
|
|
rs762719989 CA5951023 |
283 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA221119782 rs868544201 |
285 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5951021 rs769415358 |
288 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5951020 rs747619230 |
289 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA221119780 rs866837294 |
289 | P>S | No |
ClinGen Ensembl |
|
|
rs1278653859 CA380406863 |
292 | H>N | No |
ClinGen gnomAD |
|
|
CA380406850 rs1343628011 |
294 | E>Q | No |
ClinGen gnomAD |
|
|
CA380406841 rs1386784730 |
295 | R>Q | No |
ClinGen gnomAD |
|
|
COSM1561412 rs747329999 CA5951017 |
295 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs758526002 CA5951015 |
296 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5951016 rs780433805 |
296 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs373629997 CA5951014 |
302 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778853250 CA5951013 |
303 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA380406764 rs1413942160 |
306 | N>D | No |
ClinGen TOPMed |
|
|
rs1171890467 CA380406756 |
307 | C>R | No |
ClinGen gnomAD |
|
|
CA5951009 rs755006209 |
311 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1334022606 CA380406710 |
313 | S>N | No |
ClinGen gnomAD |
|
|
CA221119778 rs904368421 |
314 | W>R | No |
ClinGen TOPMed |
|
|
rs151083424 CA221119777 COSM106923 |
315 | W>* | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs151083424 CA380406692 |
315 | W>C | No |
ClinGen gnomAD |
|
|
CA5951007 rs766338226 |
317 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 317 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5951006 rs762510706 |
318 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380406666 rs1397336834 |
319 | M>T | No |
ClinGen TOPMed |
|
|
rs772857823 CA5951005 |
320 | A>V | No |
ClinGen ExAC gnomAD |
|
|
COSM333802 rs1354207333 CA380406654 |
321 | P>A | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA380406651 COSM1703824 rs1321163170 |
321 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs202082491 CA5951004 |
322 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5950999 rs768175400 |
326 | C>G* | No |
ClinGen ExAC |
|
| TCGA novel | 328 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380406609 rs1332275809 |
328 | A>T | No |
ClinGen gnomAD |
|
|
CA5950998 rs776146097 COSM542340 |
329 | R>W | lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5950994 rs772553152 |
334 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1032228641 CA221119774 |
334 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA221119775 rs772553152 |
334 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1259529223 CA380406564 |
335 | N>D | No |
ClinGen TOPMed |
|
|
CA380406536 rs1172465341 |
339 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 339 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 340 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380406517 rs1347752379 |
341 | I>M | No |
ClinGen TOPMed |
|
|
rs1565001048 CA380406519 |
341 | I>T | No |
ClinGen Ensembl |
|
|
CA5950991 rs757451886 |
345 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA5950992 rs779147551 |
345 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380406481 rs1418719841 |
347 | N>D | No |
ClinGen gnomAD |
|
|
CA380406440 rs1175148260 |
352 | Y>C | No |
ClinGen gnomAD |
|
|
CA380406435 rs1238953050 |
353 | A>T | No |
ClinGen gnomAD |
|
|
CA5950990 rs749349904 |
353 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5950989 rs778049301 |
354 | P>L | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1237562645 CA380406423 |
355 | V>E | No |
ClinGen gnomAD |
|
| TCGA novel | 355 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs908611922 CA221119772 |
359 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs908611922 CA380406398 |
359 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs764899167 CA5950983 COSM3415847 |
361 | A>E | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5950984 rs750204172 |
361 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs764899167 CA380406385 |
361 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs560815816 CA5950981 |
364 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761164531 CA5950979 |
365 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1269767686 CA380406358 |
366 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
COSM688208 rs772469219 CA5950977 |
367 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5950976 rs375802247 |
368 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1432273601 CA380406331 |
369 | M>I | No |
ClinGen TOPMed |
|
|
CA380406335 rs1209172425 |
369 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs774619658 CA5950975 |
370 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1242275793 CA380406315 |
372 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA221119771 rs1049481601 |
374 | K>T | No |
ClinGen Ensembl |
|
|
CA380406288 rs530300815 |
376 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5950972 rs530300815 |
376 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749582918 CA5950973 |
376 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA380406283 rs1590404420 |
377 | A>G | No |
ClinGen Ensembl |
|
|
rs1590404372 CA380406280 |
378 | S>P | No |
ClinGen Ensembl |
|
|
CA5950970 rs748255377 |
379 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380406272 rs748255377 |
379 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 382 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380406245 rs1243295901 |
384 | V>L | No |
ClinGen gnomAD |
|
|
rs1345876342 CA380406196 |
391 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 393 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778618641 CA5950966 |
393 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 395 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs970993511 CA380406166 |
396 | H>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA380406162 rs1399960376 |
396 | H>Q | No |
ClinGen gnomAD |
|
|
CA5950963 rs763740299 |
396 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs970993511 CA221119770 |
396 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 397 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs563035658 CA5950962 |
398 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs563035658 CA221119769 |
398 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752236880 CA5950961 |
398 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380406148 rs149977458 |
399 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149977458 CA5950959 |
399 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA380406145 rs1164054282 |
400 | K>Q | No |
ClinGen gnomAD |
|
|
COSM926837 CA5950958 rs774766274 |
401 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5950956 rs763416398 |
402 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375987229 CA5950957 COSM187762 |
402 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5950954 rs139317296 |
403 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5950953 rs748194237 |
404 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 405 | V>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5950950 rs745847556 |
408 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs372777321 CA5950949 |
410 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380406053 rs753647168 |
414 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5950947 rs753647168 |
414 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA380406044 rs1300109403 |
416 | V>L | No |
ClinGen gnomAD |
|
|
rs999956729 CA221119768 |
417 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 419 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380406024 rs1403108101 |
419 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 423 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1369414713 CA380405961 |
427 | M>I | No |
ClinGen TOPMed |
|
|
rs752230204 CA5950944 |
427 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs368163511 CA380405929 |
432 | V>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs368163511 CA5950942 |
432 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767010660 CA5950940 |
435 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA380405905 rs1590403779 |
436 | T>P | No |
ClinGen Ensembl |
|
|
CA380405882 rs1590403763 |
440 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 441 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868417857 CA221119765 |
442 | N>Y | No |
ClinGen Ensembl |
|
|
CA5950937 rs371939041 |
445 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1590403700 CA380405845 |
446 | A>P | No |
ClinGen Ensembl |
|
|
CA5950936 rs202214030 |
446 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA380405825 rs1467078553 |
449 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 451 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA221119764 rs939997458 |
453 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs866609240 CA221119763 |
455 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1280586214 CA380405784 |
456 | T>A | No |
ClinGen gnomAD |
|
|
rs1249861379 CA380405779 |
456 | T>I | No |
ClinGen gnomAD |
|
|
CA5950933 COSM1734473 rs138717868 |
457 | V>I | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1275564648 CA380410041 |
459 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1240150779 CA380410045 |
459 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 460 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5950932 rs778657284 |
462 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA380410006 rs1353042997 |
464 | P>A | No |
ClinGen gnomAD |
|
|
rs1330935543 CA380410004 |
464 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA221119761 rs866312351 |
466 | Q>* | No |
ClinGen Ensembl |
|
|
CA5950930 rs749051691 |
466 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777594625 CA5950929 |
468 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5950927 rs74858686 COSM187761 |
470 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs140686123 CA5950928 |
470 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1468280863 CA380409960 |
471 | T>I | No |
ClinGen gnomAD |
|
|
CA380409948 rs1237120953 |
473 | D>V | No |
ClinGen gnomAD |
|
|
CA380409921 rs766957169 |
477 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766957169 CA5950923 |
477 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5950924 rs556694543 |
477 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA221119760 rs766957169 |
477 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208610949 CA380409918 |
478 | P>A | No |
ClinGen gnomAD |
|
|
CA5950922 rs759009983 |
479 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 479 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750790085 CA5950921 |
480 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs368818136 CA221119759 |
481 | V>L | No |
ClinGen ESP |
|
|
CA5950919 rs762086751 COSM1978705 |
483 | D>N | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5950918 rs776649117 |
485 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA221119757 rs1025205978 |
488 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA221119755 rs1037089610 |
490 | T>S | No |
ClinGen Ensembl |
|
|
rs1178150067 CA380409835 |
491 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 491 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380409836 rs1178150067 |
491 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA5950916 rs374457203 |
493 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1242603224 CA380409818 |
494 | T>I | No |
ClinGen TOPMed |
|
|
rs766203247 CA221119753 |
496 | Q>H | No |
ClinGen TOPMed |
|
|
rs376434473 CA221119752 |
497 | S>G | No |
ClinGen Ensembl |
|
| TCGA novel | 497 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 497 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA221119751 rs955655985 |
499 | R>G | No |
ClinGen TOPMed |
|
|
CA380409780 rs1158836969 |
500 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs772990005 COSM1703822 CA5950913 |
504 | T>I | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs772990005 CA5950912 |
504 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA380409751 rs1257921879 |
505 | F>V | No |
ClinGen TOPMed |
|
|
rs376138045 CA5950911 |
506 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5950910 rs376138045 |
506 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1163689753 CA380409708 |
509 | V>G | No |
ClinGen TOPMed |
|
|
rs1228328668 CA380409695 |
511 | D>N | No |
ClinGen gnomAD |
|
|
rs746466383 CA5950907 |
512 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1351544182 CA380409682 |
512 | I>T | No |
ClinGen gnomAD |
|
|
rs1360226831 CA380409668 |
513 | N>K | No |
ClinGen gnomAD |
|
|
rs1295723667 CA380409637 |
516 | I>S | No |
ClinGen gnomAD |
|
| TCGA novel | 518 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201321341 CA221119750 |
518 | G>E | No |
ClinGen TOPMed |
|
|
rs202046660 CA221119749 |
519 | I>T | No |
ClinGen 1000Genomes |
|
|
rs1285445870 CA380409591 COSM542348 |
521 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs779755396 CA5950906 |
522 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA380409565 rs1438147678 |
523 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA380409555 rs1345090814 |
524 | K>R | No |
ClinGen TOPMed |
|
|
CA5950904 rs148878505 |
528 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA380409495 COSM1353751 rs1564998552 |
530 | I>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 531 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380409452 rs1379640843 |
535 | A>T | No |
ClinGen gnomAD |
|
|
CA380409427 rs1304468049 |
537 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 537 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754251791 CA5950901 |
538 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1590402705 CA380409377 |
542 | V>G | No |
ClinGen Ensembl |
|
|
rs1590402654 CA380409313 |
548 | Y>F | No |
ClinGen Ensembl |
|
|
CA5950897 rs767651943 |
550 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA380409293 rs1590402650 |
550 | M>K | No |
ClinGen Ensembl |
|
|
rs1163649861 CA380409262 |
553 | Q>E | No |
ClinGen gnomAD |
|
|
rs1423549718 CA380409236 |
555 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs759619273 CA380409233 |
555 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199532417 CA5950894 |
556 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773078198 CA5950895 |
556 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1284945006 CA380409216 |
558 | N>D | No |
ClinGen TOPMed |
|
|
CA380409185 rs142620688 |
560 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1489316712 CA380409179 |
561 | A>D | No |
ClinGen gnomAD |
|
|
rs369984575 CA5950891 |
561 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs549013467 CA221119747 |
563 | T>I | No |
ClinGen 1000Genomes |
|
|
CA380409152 rs1244365533 |
564 | R>K | No |
ClinGen gnomAD |
|
|
CA380409134 rs1314660245 |
566 | V>A | No |
ClinGen gnomAD |
|
|
rs1322060841 CA380409138 |
566 | V>I | No |
ClinGen gnomAD |
|
|
CA221119746 rs866935822 |
567 | E>K | No |
ClinGen Ensembl |
|
|
rs1485685013 CA380409075 |
572 | D>A | No |
ClinGen TOPMed |
|
|
CA5950889 rs746729118 |
574 | E>G | No |
ClinGen ExAC gnomAD |
|
|
COSM687381 CA380409032 rs201412968 |
576 | T>K | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA5950888 rs201412968 COSM3375793 |
576 | T>M | pancreas Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 576 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5950886 rs745382891 |
577 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5950885 rs143371171 |
578 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5950884 rs757812600 COSM1353749 |
580 | P>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA380408998 rs1350805796 |
580 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 582 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268402542 COSM175073 CA380408945 |
585 | L>M | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1423453389 CA380408918 |
587 | M>I | No |
ClinGen gnomAD |
|
|
CA380408926 rs1477127692 |
587 | M>L | No |
ClinGen gnomAD |
|
|
rs1477127692 CA380408927 |
587 | M>V | No |
ClinGen gnomAD |
|
|
COSM357192 CA380408916 rs1195054432 |
588 | P>A | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA221119743 rs1019454822 |
588 | P>L | No |
ClinGen Ensembl |
|
|
CA5950883 rs754121365 |
589 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA380408892 rs372488464 |
590 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1265399104 CA380408899 |
590 | I>V | No |
ClinGen gnomAD |
|
|
CA5950880 rs140098293 |
591 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369448332 CA5950881 |
591 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5950879 rs551187407 |
592 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA380408877 rs1196454409 |
592 | H>Y | No |
ClinGen gnomAD |
|
|
CA5950878 rs146086948 |
594 | H>D | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 594 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751674170 CA5950877 |
597 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1300048185 CA380408786 |
599 | N>K | No |
ClinGen gnomAD |
|
|
rs761855836 CA5950875 |
601 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 602 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1328883374 CA380408725 |
604 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs565418856 CA221119742 |
604 | P>S | No |
ClinGen 1000Genomes |
|
|
rs760548470 CA5950872 |
605 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs1028564641 CA221119741 |
605 | F>L | No |
ClinGen gnomAD |
|
|
rs760548470 CA380408723 |
605 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA5950871 rs775223297 |
608 | T>A | No |
ClinGen ExAC gnomAD |
|
| rs762387489 | 610 | T>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380408670 rs1311348991 |
610 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 611 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380408639 rs1564997544 |
613 | T>S | No |
ClinGen Ensembl |
|
|
rs1269664570 CA380408626 |
614 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs756384730 CA221119739 |
618 | H>R | No |
ClinGen gnomAD |
|
|
CA380408589 rs1279929017 |
618 | H>Y | No |
ClinGen TOPMed |
|
|
CA380408552 rs1457120152 |
621 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs949502432 CA221119737 |
626 | L>S | No |
ClinGen TOPMed |
|
|
rs1342853562 CA380408493 |
627 | I>M | No |
ClinGen gnomAD |
|
|
rs1036799298 CA221119736 |
628 | R>* | Variant assessed as Somatic; 4.628e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM926832 rs778525061 CA5950867 |
628 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5950865 rs749874576 |
629 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA380408457 rs1402724770 |
631 | S>A | No |
ClinGen gnomAD |
|
|
rs1564997321 CA380408450 |
632 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 632 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5950863 rs756445230 |
634 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 635 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA380408380 rs1232674314 |
638 | T>S | No |
ClinGen TOPMed |
|
|
rs1332521624 CA380408378 |
639 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 640 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q9HCJ2
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of postsynaptic density membrane | The component of the postsynaptic density membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| Schaffer collateral - CA1 synapse | A synapse between the Schaffer collateral axon of a CA3 pyramidal cell and a CA1 pyramidal cell. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| cell adhesion molecule binding | Binding to a cell adhesion molecule. |
| cell-cell adhesion mediator activity | The binding by a cell-adhesion protein on the cell surface to an extracellular matrix component, to mediate adhesion of the cell to another cell. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| modulation of chemical synaptic transmission | Any process that modulates the frequency or amplitude of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. Amplitude, in this case, refers to the change in postsynaptic membrane potential due to a single instance of synaptic transmission. |
| regulation of axonogenesis | Any process that modulates the frequency, rate or extent of axonogenesis, the generation of an axon, the long process of a neuron. |
| synaptic membrane adhesion | The attachment of presynaptic membrane to postsynaptic membrane via adhesion molecules that are at least partially embedded in the plasma membrane. |
36 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3MHH9 | ECM2 | Extracellular matrix protein 2 | Bos taurus (Bovine) | PR |
| P58874 | OPTC | Opticin | Bos taurus (Bovine) | PR |
| Q24K06 | LRRC10 | Leucine-rich repeat-containing protein 10 | Bos taurus (Bovine) | PR |
| Q9V780 | Lap1 | Protein lap1 | Drosophila melanogaster (Fruit fly) | PR |
| Q96NW7 | LRRC7 | Leucine-rich repeat-containing protein 7 | Homo sapiens (Human) | PR |
| Q8IWT6 | LRRC8A | Volume-regulated anion channel subunit LRRC8A | Homo sapiens (Human) | PR |
| Q9UFC0 | LRWD1 | Leucine-rich repeat and WD repeat-containing protein 1 | Homo sapiens (Human) | PR |
| Q96L50 | LRR1 | Leucine-rich repeat protein 1 | Homo sapiens (Human) | PR |
| Q86UN2 | RTN4RL1 | Reticulon-4 receptor-like 1 | Homo sapiens (Human) | PR |
| Q8IWK6 | ADGRA3 | Adhesion G protein-coupled receptor A3 | Homo sapiens (Human) | PR |
| Q7L1W4 | LRRC8D | Volume-regulated anion channel subunit LRRC8D | Homo sapiens (Human) | PR |
| Q96FE5 | LINGO1 | Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 | Homo sapiens (Human) | PR |
| Q8TDW0 | LRRC8C | Volume-regulated anion channel subunit LRRC8C | Homo sapiens (Human) | PR |
| Q38SD2 | LRRK1 | Leucine-rich repeat serine/threonine-protein kinase 1 | Homo sapiens (Human) | EV |
| A6H694 | Lrrc63 | Leucine-rich repeat-containing protein 63 | Mus musculus (Mouse) | PR |
| Q9D9Q0 | Lrrc69 | Leucine-rich repeat-containing protein 69 | Mus musculus (Mouse) | PR |
| Q8BGI7 | Lrrc39 | Leucine-rich repeat-containing protein 39 | Mus musculus (Mouse) | PR |
| Q7TT36 | Adgra3 | Adhesion G protein-coupled receptor A3 | Mus musculus (Mouse) | PR |
| P59383 | Lrrn4 | Leucine-rich repeat neuronal protein 4 | Mus musculus (Mouse) | PR |
| Q9D1T0 | Lingo1 | Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 | Mus musculus (Mouse) | PR |
| Q8R502 | Lrrc8c | Volume-regulated anion channel subunit LRRC8C | Mus musculus (Mouse) | PR |
| Q80WG5 | Lrrc8a | Volume-regulated anion channel subunit LRRC8A | Mus musculus (Mouse) | PR |
| Q8K0S5 | Rtn4rl1 | Reticulon-4 receptor-like 1 | Mus musculus (Mouse) | PR |
| Q80TE7 | Lrrc7 | Leucine-rich repeat-containing protein 7 | Mus musculus (Mouse) | PR |
| Q5DU41 | Lrrc8b | Volume-regulated anion channel subunit LRRC8B | Mus musculus (Mouse) | PR |
| Q5RKR3 | Islr2 | Immunoglobulin superfamily containing leucine-rich repeat protein 2 | Mus musculus (Mouse) | PR |
| Q8C031 | Lrrc4c | Leucine-rich repeat-containing protein 4C | Mus musculus (Mouse) | PR |
| P70587 | Lrrc7 | Leucine-rich repeat-containing protein 7 | Rattus norvegicus (Rat) | PR |
| Q4V8G0 | Lrrc63 | Leucine-rich repeat-containing protein 63 | Rattus norvegicus (Rat) | PR |
| Q80WD0 | Rtn4rl1 | Reticulon-4 receptor-like 1 | Rattus norvegicus (Rat) | PR |
| Q9TZM3 | lrk-1 | Leucine-rich repeat serine/threonine-protein kinase 1 | Caenorhabditis elegans | SS |
| Q9SHI4 | RLP3 | Receptor-like protein 3 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q5G5E0 | PIRL5 | Plant intracellular Ras-group-related LRR protein 5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| B0JZ65 | lrwd1 | Leucine-rich repeat and WD repeat-containing protein 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q68F79 | lrrc8e | Volume-regulated anion channel subunit LRRC8E | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| B0R160 | lrwd1 | Leucine-rich repeat and WD repeat-containing protein 1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLNKMTLHPQ | QIMIGPRFNR | ALFDPLLVVL | LALQLLVVAG | LVRAQTCPSV | CSCSNQFSKV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ICVRKNLREV | PDGISTNTRL | LNLHENQIQI | IKVNSFKHLR | HLEILQLSRN | HIRTIEIGAF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NGLANLNTLE | LFDNRLTTIP | NGAFVYLSKL | KELWLRNNPI | ESIPSYAFNR | IPSLRRLDLG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ELKRLSYISE | GAFEGLSNLR | YLNLAMCNLR | EIPNLTPLIK | LDELDLSGNH | LSAIRPGSFQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GLMHLQKLWM | IQSQIQVIER | NAFDNLQSLV | EINLAHNNLT | LLPHDLFTPL | HHLERIHLHH |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NPWNCNCDIL | WLSWWIKDMA | PSNTACCARC | NTPPNLKGRY | IGELDQNYFT | CYAPVIVEPP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ADLNVTEGMA | AELKCRASTS | LTSVSWITPN | GTVMTHGAYK | VRIAVLSDGT | LNFTNVTVQD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TGMYTCMVSN | SVGNTTASAT | LNVTAATTTP | FSYFSTVTVE | TMEPSQDEAR | TTDNNVGPTP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VVDWETTNVT | TSLTPQSTRS | TEKTFTIPVT | DINSGIPGID | EVMKTTKIII | GCFVAITLMA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| AVMLVIFYKM | RKQHHRQNHH | APTRTVEIIN | VDDEITGDTP | MESHLPMPAI | EHEHLNHYNS |
| 610 | 620 | 630 | |||
| YKSPFNHTTT | VNTINSIHSS | VHEPLLIRMN | SKDNVQETQI |