Q96I59
PR
Gene name |
NARS2 |
Protein name |
Probable asparagine--tRNA ligase, mitochondrial |
Names |
Asparaginyl-tRNA synthetase, AsnRS |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79731 |
EC number |
6.1.1.22: Ligases forming aminoacyl-tRNA and related compounds |
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 Q96I59
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96I59-F1 | Predicted | AlphaFoldDB |
464 variants for Q96I59
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs778711345 CA6206013 RCV001266149 |
2 | L>P | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000626110 rs1555047651 |
4 | V>missing | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6205933 COSM932308 RCV000656263 RCV000779619 rs367584549 |
51 | R>C | lung Combined oxidative phosphorylation defect type 24 Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000481204 CA6205927 rs201751992 RCV000779615 |
56 | Q>R | Combined oxidative phosphorylation defect type 24 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs10501429 RCV002062280 VAR_052636 RCV000444244 CA6205892 RCV001778959 RCV000988620 |
87 | N>T | Combined oxidative phosphorylation defect type 24 Hearing loss, autosomal recessive 94 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002468578 rs1057524183 RCV000428736 CA16606341 |
140 | R>* | Combined oxidative phosphorylation defect type 24 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001336122 rs1856737824 RCV002546762 |
146 | R>G | Combined oxidative phosphorylation defect type 24 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6205829 RCV001856178 RCV000779620 rs750594551 |
167 | H>R | Combined oxidative phosphorylation defect type 24 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16603239 RCV000434134 RCV002521510 rs144653284 |
169 | F>Y | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
rs748779965 RCV001261537 |
182 | I>K | Combined oxidative phosphorylation defect type 24 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs762191692 RCV002546367 RCV001329996 |
202 | K>S | Combined oxidative phosphorylation defect type 24 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000481783 rs755122704 RCV000779616 CA6205769 |
211 | F>I | Combined oxidative phosphorylation defect type 24 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_073723 RCV000779614 CA382177743 rs756725793 |
213 | V>F | Hearing loss, autosomal recessive 94 DFNB94; probable loss-of-function variant; unable to rescue mitochondrial respiratory chain defects in NARS2 null fibroblasts; does not affect homodimerization; does not affect localization to mitochondrion [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs730882155 VAR_073250 CA186000 RCV000162035 |
214 | P>L | Combined oxidative phosphorylation defect type 24 COXPD24 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001797173 RCV001336123 CA6205764 rs140016209 |
214 | P>T | Combined oxidative phosphorylation defect type 24 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000779617 CA382177436 rs1565235204 |
236 | F>C | Combined oxidative phosphorylation defect type 24 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001270100 CA16606340 RCV000431641 rs952741388 |
243 | R>* | Hearing loss, autosomal recessive 94 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000489785 rs150879145 RCV002468582 CA6205723 |
250 | R>Q | Combined oxidative phosphorylation defect type 24 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000162034 rs730882154 CA214554 |
274 | Q>H | Combined oxidative phosphorylation defect type 24 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001331334 CA6205680 RCV000404191 rs146900529 |
282 | A>T | Hearing loss, autosomal recessive 94 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6205678 RCV001331335 rs549442380 RCV002546462 RCV002546461 |
283 | T>A | Combined oxidative phosphorylation defect type 24 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA225100636 RCV001784392 rs565224393 RCV000779611 CA382176409 |
323 | Y>* | Combined oxidative phosphorylation defect type 24 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
| VAR_082311 | 323 | Y>del | COXPD24 [UniProt] | Yes | UniProt |
| VAR_086708 | 381 | N>D | COXPD24; unknown pathological significance; no effect on homodimer formation; does not affect localization to mitochondrion [UniProt] | Yes | UniProt |
|
RCV000779612 CA382176018 rs1565216037 VAR_073724 |
381 | N>S | Combined oxidative phosphorylation defect type 24 COXPD24; does not form homodimers; does not affect localization to mitochondrion [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000779618 CA382179548 rs763770414 |
395 | L>R | Combined oxidative phosphorylation defect type 24 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs535877562 CA6205545 RCV001858696 RCV000988619 COSM429918 |
418 | R>H | Combined oxidative phosphorylation defect type 24 Variant assessed as Somatic; 0.0 impact. breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_086709 | 430 | W>C | COXPD24; unknown pathological significance; no effect on homodimer formation; does not affect localization to mitochondrion [UniProt] | Yes | UniProt |
|
CA382178468 rs1481123553 COSM276257 RCV001329995 |
435 | R>C | Combined oxidative phosphorylation defect type 24 Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000626109 rs751383065 CA382178463 |
436 | R>G | Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001225311 rs1399346230 CA382178219 |
454 | Q>R | Combined oxidative phosphorylation defect type 24 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs200640877 CA6206011 |
3 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA382180879 rs1314013804 |
4 | V>F | No |
ClinGen gnomAD |
|
|
CA382180876 rs1590885471 |
4 | V>G | No |
ClinGen Ensembl |
|
|
CA382180880 rs1314013804 |
4 | V>L | No |
ClinGen gnomAD |
|
|
rs1417937166 CA382180875 |
5 | R>C | No |
ClinGen TOPMed |
|
|
CA382180870 rs1437163402 |
5 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs779479776 CA6206010 |
6 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA6206004 rs114743209 RCV000969265 RCV000433331 |
9 | R>P | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs114743209 CA382180851 |
9 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000901687 rs141907023 CA6206005 |
9 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 11 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296609482 CA382180836 |
12 | R>G | No |
ClinGen TOPMed |
|
|
rs760071870 CA6205999 |
12 | R>L | No |
ClinGen ExAC |
|
|
rs1311537656 CA382180825 |
13 | F>L | No |
ClinGen TOPMed |
|
|
CA225113550 rs901853447 |
15 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1279553003 CA382180815 |
15 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1281677463 CA382180810 |
16 | S>A | No |
ClinGen gnomAD |
|
|
RCV000426496 CA16603226 rs777015479 |
16 | S>F | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA6205998 rs777015479 |
16 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6205996 rs747408900 |
17 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774098371 CA6205995 |
17 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6205993 rs779612507 |
18 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6205991 rs755639334 |
18 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6205992 rs779612507 |
18 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339263783 CA382180799 |
19 | F>L | No |
ClinGen Ensembl |
|
|
rs757009762 CA382180788 |
20 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs757009762 CA6205988 |
20 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1163135745 CA382180791 |
20 | P>T | No |
ClinGen TOPMed |
|
|
CA382180772 rs1166771117 |
22 | H>Q | No |
ClinGen gnomAD |
|
|
CA382180775 rs1447766954 |
22 | H>R | No |
ClinGen TOPMed |
|
|
CA382180779 COSM1293114 rs1354378126 |
22 | H>Y | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA6205986 rs763911960 |
23 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs759537113 CA6205982 |
27 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs759537113 CA6205983 |
27 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA6205981 rs777155232 |
28 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382180737 rs777155232 |
28 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6205980 rs559769498 |
29 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA382180727 CA382180728 rs1333548331 |
30 | V>L | No |
ClinGen TOPMed |
|
|
CA6205978 rs773682065 |
31 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382180718 rs1270601636 |
32 | D>Y | No |
ClinGen TOPMed |
|
|
rs1235452177 CA382180710 |
33 | A>P | No |
ClinGen gnomAD |
|
|
CA382180704 rs1317117203 |
34 | L>H | No |
ClinGen TOPMed |
|
|
CA6205976 rs532494846 |
34 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA225113548 rs532494846 |
34 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6205974 rs371097182 |
35 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382180700 rs371097182 |
35 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1186233834 CA382180694 |
36 | A>T | No |
ClinGen TOPMed |
|
|
rs745404493 CA6205973 COSM690547 |
37 | Q>E | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1315646147 CA382180684 |
37 | Q>H | No |
ClinGen Ensembl |
|
|
rs1434495530 CA382180686 |
37 | Q>R | No |
ClinGen gnomAD |
|
|
CA382180677 rs1470501746 |
38 | N>I | No |
ClinGen gnomAD |
|
|
COSM1188358 rs781138896 CA6205972 |
39 | A>G | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA225113547 rs148139347 |
39 | A>S | No |
ClinGen ESP |
|
|
rs781138896 CA382180671 |
39 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1367741605 CA382180660 RCV000992451 |
41 | G>E | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA6205971 rs200882675 |
41 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000482038 rs1064796717 |
42 | E>missing | No |
ClinVar dbSNP |
|
|
rs777527618 CA6205969 |
42 | E>* | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs529245395 CA6205968 |
42 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen 1000Genomes ExAC gnomAD |
|
rs199706625 CA6205967 |
43 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs975393796 CA225113545 |
45 | K>E | No |
ClinGen TOPMed |
|
|
rs755035443 CA6205965 |
47 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA382180607 rs1307333332 |
48 | G>R | No |
ClinGen gnomAD |
|
|
CA6205934 rs373236173 |
49 | W>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs748157459 CA6205932 |
51 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA382180579 rs1414949397 |
52 | S>Y | No |
ClinGen TOPMed |
|
|
rs751315158 CA6205929 |
54 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751315158 CA6205930 |
54 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382180570 rs889193425 |
54 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA225113167 rs889193425 COSM196710 |
54 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs201751992 CA6205926 |
56 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486255821 CA382180552 |
57 | K>R | No |
ClinGen gnomAD |
|
|
rs1260264540 CA382180547 |
58 | E>* | No |
ClinGen gnomAD |
|
|
CA6205925 rs745971429 |
58 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs923264965 CA225113166 |
59 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6205922 rs752162760 |
60 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1287544800 CA382180519 |
62 | L>P | No |
ClinGen gnomAD |
|
|
rs764304306 CA6205921 |
63 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA6205920 rs369542514 |
65 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6205918 rs766040190 |
68 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs149009700 CA6205917 |
69 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149009700 CA6205916 |
69 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA382180441 rs1451234502 |
74 | Q>R | No |
ClinGen gnomAD |
|
|
rs1475741475 CA382180435 |
75 | V>A | No |
ClinGen gnomAD |
|
|
CA6205914 rs761643935 |
75 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6205912 rs750627905 |
76 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6205913 rs774360235 |
76 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1483269751 CA382180421 |
78 | D>H | No |
ClinGen TOPMed |
|
|
rs1483269751 CA382180422 |
78 | D>N | No |
ClinGen TOPMed |
|
|
rs1428722575 CA382180403 |
80 | G>V | No |
ClinGen gnomAD |
|
|
rs913861268 CA225113163 |
82 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA382180394 rs1183814500 |
82 | D>Y | No |
ClinGen TOPMed |
|
|
CA6205910 rs749129005 |
83 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775808543 CA6205909 |
83 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs764120054 CA382180365 |
85 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6205894 rs764120054 |
85 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382180347 rs10501429 |
87 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs10501429 CA382180348 |
87 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1225470760 CA382180325 |
90 | S>I | No |
ClinGen gnomAD |
|
|
rs1303684625 CA382180318 |
91 | S>C | No |
ClinGen gnomAD |
|
|
rs769765345 CA6205890 |
92 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA382180311 rs1446210809 |
93 | E>K | No |
ClinGen TOPMed |
|
|
CA225112834 rs201200773 |
95 | Q>H | No |
ClinGen 1000Genomes gnomAD |
|
|
CA382180294 rs1243469114 |
95 | Q>P | No |
ClinGen TOPMed |
|
|
rs1405173539 CA382180287 |
96 | G>A | No |
ClinGen gnomAD |
|
|
rs770423552 CA6205889 |
97 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776928642 CA6205888 |
99 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 102 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1389705886 CA382180241 |
103 | S>F | No |
ClinGen gnomAD |
|
|
CA6205885 rs538946129 RCV000912050 |
104 | K>R | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1407962947 CA382180213 |
107 | N>T | No |
ClinGen TOPMed |
|
|
CA382180197 rs1590876966 |
109 | E>D | No |
ClinGen Ensembl |
|
|
CA6205882 rs141090256 |
109 | E>Q | No |
ClinGen ESP ExAC TOPMed |
|
|
CA382180184 rs755340276 |
111 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA225112833 rs368330294 |
112 | A>T | No |
ClinGen ESP TOPMed |
|
|
CA6205879 rs760247327 |
115 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6205878 rs374024785 |
118 | I>T | No |
ClinGen ESP ExAC TOPMed |
|
|
rs756680035 CA6205877 |
122 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1280481942 CA382180113 |
122 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA382180096 rs1273887695 |
124 | K>R | No |
ClinGen gnomAD |
|
|
rs1273887695 CA382180097 |
124 | K>T | No |
ClinGen gnomAD |
|
|
CA6205862 rs199565168 |
125 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA382180061 rs1341703451 |
127 | P>R | No |
ClinGen TOPMed |
|
|
rs1401552586 CA382180065 |
127 | P>S | No |
ClinGen gnomAD |
|
|
CA6205860 rs779405464 |
128 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs768959016 CA6205859 |
129 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382180040 rs1418417084 RCV000722484 |
130 | Y>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA382180042 rs1472145455 |
130 | Y>C | No |
ClinGen gnomAD |
|
|
CA382180044 rs1254633537 |
130 | Y>D | No |
ClinGen TOPMed |
|
|
CA6205858 rs377052090 |
131 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382180035 rs377052090 |
131 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 132 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382180017 rs1236431141 |
133 | R>S | No |
ClinGen gnomAD |
|
|
CA382180013 rs1216016761 |
134 | H>R | No |
ClinGen TOPMed |
|
|
CA6205857 rs780320416 |
134 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA382180005 rs199705006 |
135 | P>H | No |
ClinGen gnomAD |
|
|
CA225112564 rs199705006 |
135 | P>L | No |
ClinGen gnomAD |
|
|
rs929253420 CA225112563 |
136 | L>V | No |
ClinGen TOPMed |
|
|
CA382179986 rs10751296 CA382179985 |
138 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1265851078 CA382179988 |
138 | Y>C | No |
ClinGen gnomAD |
|
|
CA6205855 rs751225051 |
139 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6205853 rs757999669 |
140 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757999669 CA6205854 |
140 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs552640439 CA6205852 |
141 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382179975 rs552640439 |
141 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373896671 CA6205850 |
143 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6205848 rs201766871 |
144 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs547336970 CA6205847 |
146 | R>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA225112562 rs985669077 |
147 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA6205844 rs761902703 |
150 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs774798675 CA6205843 |
150 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA6205842 rs769118312 |
151 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs369582277 CA225112559 |
152 | L>Q | No |
ClinGen ESP |
|
|
rs749805230 CA6205841 |
152 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6205839 rs770119015 |
155 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1489345432 CA382179888 |
155 | I>T | No |
ClinGen TOPMed |
|
|
rs561918687 CA6205840 |
155 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1224256462 CA382179872 |
158 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA382179870 rs1224256462 |
158 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM168212 rs746618673 CA6205838 |
159 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6205836 rs757944504 |
159 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6205837 rs757944504 |
159 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6205835 rs747633734 |
162 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6205833 rs754931003 |
163 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA225112558 rs962909016 |
164 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs531579103 CA6205831 |
165 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1454951484 CA382179831 |
165 | A>T | No |
ClinGen TOPMed |
|
|
rs562673071 CA6205830 |
167 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA382179804 rs144653284 |
169 | F>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA382179807 rs1392388968 |
169 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA382179801 rs1590873883 |
169 | F>L | No |
ClinGen Ensembl |
|
|
rs762060110 CA6205827 |
171 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 172 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6205804 rs150980817 |
172 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142593807 CA6205803 |
173 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771491472 CA6205802 |
174 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs761491145 CA6205801 |
175 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs774161803 CA6205800 |
177 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382179740 rs1307364062 |
177 | H>R | No |
ClinGen gnomAD |
|
|
rs774161803 CA225111784 |
177 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382179723 rs1414840964 COSM932306 |
179 | H>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1040690741 CA225111783 |
181 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs748779965 CA6205798 |
182 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs372086134 CA6205799 |
182 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6205797 rs779653592 |
183 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA225111782 rs914124799 |
185 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6205796 rs148482253 |
186 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745861187 CA6205795 |
187 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs780959102 CA6205794 |
188 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs548096482 CA6205793 |
191 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA382179654 rs1469720308 |
191 | A>T | No |
ClinGen TOPMed |
|
|
CA6205792 rs751719345 |
192 | G>A | No |
ClinGen ExAC gnomAD |
|
|
COSM297893 rs146264111 CA225111778 |
193 | E>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA |
|
rs777892103 CA6205791 |
195 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA382179620 rs1196678619 |
196 | Q>R | No |
ClinGen TOPMed |
|
|
rs866642549 CA225111776 |
198 | E>D | No |
ClinGen Ensembl |
|
|
CA382177896 rs1463373267 |
199 | P>R | No |
ClinGen gnomAD |
|
|
rs769357563 CA6205779 |
200 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs561430299 CA6205778 |
201 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1339831241 CA382177859 |
202 | K>R | No |
ClinGen TOPMed |
|
|
rs781116865 CA6205776 |
203 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781116865 CA225107892 |
203 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374704112 CA225107891 |
205 | V>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6205775 rs746780364 |
205 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6205774 rs746780364 |
205 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA382177822 rs1299362744 |
206 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1299362744 CA382177828 |
206 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs544657093 COSM1298658 CA6205773 |
207 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA6205772 rs780545570 |
208 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6205771 rs370342814 |
209 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1462126422 CA382177764 |
210 | F>L | No |
ClinGen TOPMed |
|
|
CA6205768 rs754348995 |
212 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6205766 rs756725793 |
213 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6205765 rs140016209 |
214 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1209240587 CA382177638 |
222 | Q>R | No |
ClinGen gnomAD |
|
|
CA225107889 rs948573892 |
224 | H>L | No |
ClinGen gnomAD |
|
|
CA6205761 rs374616158 |
224 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA382177597 rs1275096292 |
226 | E>* | No |
ClinGen gnomAD |
|
|
rs759065632 CA6205760 |
227 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA225107887 rs749567818 |
229 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA382177542 rs1404940121 |
230 | G>E | No |
ClinGen gnomAD |
|
|
RCV000490045 rs190014304 CA6205759 |
230 | G>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs529341026 CA6205735 |
235 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA382177418 rs749578567 |
239 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA6205731 rs749578567 |
239 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs563387498 CA6205733 |
239 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs563387498 CA6205732 |
239 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749578567 CA6205730 |
239 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs780275182 CA6205729 |
240 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA382177408 rs1565235155 |
241 | T>S | No |
ClinGen Ensembl |
|
|
rs952741388 COSM545407 CA225103564 |
243 | R>G | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA225103563 rs199984779 |
243 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6205726 rs199984779 |
243 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382177393 rs1457545848 |
244 | A>G | No |
ClinGen gnomAD |
|
|
rs1156839399 CA382177385 |
245 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 246 | N>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1239331572 CA382177370 |
247 | S>F | No |
ClinGen TOPMed |
|
|
CA6205724 rs138187366 |
250 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 251 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866041054 CA225103562 |
252 | H>P | No |
ClinGen Ensembl |
|
|
rs1183055409 CA382177333 |
253 | L>P | No |
ClinGen gnomAD |
|
|
CA382177335 rs1221155414 |
253 | L>V | No |
ClinGen TOPMed |
|
|
CA382177331 rs1471534723 |
254 | A>T | No |
ClinGen gnomAD |
|
|
CA382177327 rs1291858810 |
254 | A>V | No |
ClinGen TOPMed |
|
|
CA6205721 rs753496641 |
255 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760257497 CA6205719 |
257 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 258 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM545408 rs1316806206 CA382177302 |
258 | M>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs767458915 CA6205717 |
259 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1419995542 CA382177281 |
260 | E>D | No |
ClinGen TOPMed |
|
|
rs1230081561 CA382177287 |
260 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1565235003 CA382177277 |
261 | A>E | No |
ClinGen Ensembl |
|
|
rs1473246427 CA382177280 |
261 | A>T | No |
ClinGen gnomAD |
|
|
CA6205716 rs541632286 |
263 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6205714 rs141507678 |
264 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6205715 rs141507678 |
264 | S>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6205713 rs763199651 |
266 | V>I | No |
ClinGen ExAC |
|
|
CA382177235 rs775865408 |
268 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs775865408 CA6205711 |
268 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA382177205 rs1350346125 |
272 | L>F | No |
ClinGen gnomAD |
|
|
CA382177204 rs1350346125 |
272 | L>I | No |
ClinGen gnomAD |
|
|
rs1490425251 CA382177195 |
273 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1490425251 CA382177196 |
273 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs778276341 CA382177159 |
276 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778276341 CA6205684 |
276 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227049568 CA382177153 |
277 | E>Q | No |
ClinGen gnomAD |
|
|
rs148381261 CA6205682 |
280 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146900529 CA6205681 |
282 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA225101837 rs946962439 |
283 | T>I | No |
ClinGen Ensembl |
|
|
rs376705196 CA225101836 |
284 | T>A | No |
ClinGen Ensembl |
|
|
CA225101835 rs371959399 |
285 | M>T | No |
ClinGen ESP |
|
|
CA382177103 rs1470572309 |
285 | M>V | No |
ClinGen TOPMed |
|
|
CA6205677 rs779726694 |
286 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs757972911 CA382177088 |
287 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6205676 rs757972911 |
287 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs532800319 CA6205674 |
288 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs142714916 CA6205673 |
289 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1479673818 CA382177064 |
291 | C>R | No |
ClinGen gnomAD |
|
|
rs1190584934 CA382177044 |
293 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 294 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759740728 CA6205671 |
297 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs116930926 RCV000428174 CA6205670 RCV000992453 |
300 | K>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs760776161 CA6205669 |
303 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs760776161 CA6205668 |
303 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1195311563 CA382176972 |
304 | P>S | No |
ClinGen gnomAD |
|
|
rs773322069 CA6205667 |
307 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 310 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1365485817 CA382176896 |
312 | H>R | No |
ClinGen gnomAD |
|
|
rs1591178521 CA382176885 |
313 | M>L | No |
ClinGen Ensembl |
|
|
CA225101823 rs368864814 |
313 | M>T | No |
ClinGen TOPMed |
|
|
CA6205646 rs1555018045 |
316 | N>K | No |
ClinGen Ensembl |
|
|
rs1384301912 CA382176831 |
317 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 318 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 319 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382176427 rs1390994252 |
320 | I>M | No |
ClinGen gnomAD |
|
|
rs1383414462 CA382176788 |
320 | I>N | No |
ClinGen gnomAD |
|
| TCGA novel | 321 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6205632 rs753555379 |
321 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA225100637 rs760946077 |
322 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 322 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA680539753 rs1283780488 |
323 | Y>* | No |
ClinGen TOPMed |
|
|
rs1474300922 CA382176411 |
323 | Y>C | No |
ClinGen gnomAD |
|
|
CA6205630 rs756323353 |
325 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766342345 CA6205628 |
328 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA225100635 rs377435131 |
329 | I>T | No |
ClinGen ESP |
|
|
CA225100634 rs544972589 |
330 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6205626 rs752062550 |
331 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1449564716 CA382176357 |
332 | Q>K | No |
ClinGen TOPMed |
|
|
CA382176348 rs1197687379 |
333 | A>P | No |
ClinGen TOPMed |
|
|
CA6205624 rs764473733 |
333 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA382176337 rs1338360201 |
335 | Q>K | No |
ClinGen gnomAD |
|
|
rs34950075 CA6205623 RCV000921540 |
336 | N>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1269908316 CA382176327 |
336 | N>T | No |
ClinGen gnomAD |
|
|
CA6205622 rs775980355 |
337 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA225100633 rs111319410 |
337 | F>S | No |
ClinGen Ensembl |
|
|
rs770289829 CA6205621 |
338 | T>I | No |
ClinGen ExAC |
|
|
rs1404376309 CA382176311 |
339 | F>L | No |
ClinGen gnomAD |
|
|
CA6205620 rs760348257 |
340 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1454721704 CA382176287 |
342 | E>D | No |
ClinGen TOPMed |
|
|
rs773025539 CA6205619 |
342 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1408362901 CA382176289 |
342 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA382176269 rs1384408807 |
343 | W>* | No |
ClinGen gnomAD |
|
|
CA6205596 rs768215376 |
343 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1261590594 CA382176264 |
344 | G>C | No |
ClinGen gnomAD |
|
|
CA225100224 rs915521643 |
344 | G>V | No |
ClinGen TOPMed |
|
|
CA225100222 rs979562397 |
347 | L>V | No |
ClinGen TOPMed |
|
|
CA382176243 rs149061222 |
348 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6205593 rs769537567 |
348 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000974267 CA6205594 rs149061222 |
348 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA382176239 rs1468780196 |
349 | T>A | No |
ClinGen TOPMed |
|
|
CA225100221 rs370630058 |
351 | H>R | No |
ClinGen ESP gnomAD |
|
|
CA382176217 rs1350135461 |
352 | E>* | No |
ClinGen gnomAD |
|
|
rs1284992811 CA382176216 |
352 | E>G | No |
ClinGen gnomAD |
|
|
rs1380861761 CA382176194 |
355 | L>V | No |
ClinGen gnomAD |
|
|
CA382176183 rs1252730032 |
357 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1252730032 CA382176184 |
357 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6205590 rs757404752 |
357 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1435574179 CA382176175 |
358 | H>Y | No |
ClinGen gnomAD |
|
|
CA382176165 rs1297292391 |
359 | C>F | No |
ClinGen TOPMed |
|
|
rs747320266 CA6205589 |
359 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA382176159 rs1156884616 |
360 | G>D | No |
ClinGen gnomAD |
|
|
CA382176155 rs1413963011 |
361 | N>D | No |
ClinGen gnomAD |
|
|
RCV000968952 RCV001731997 CA6205587 COSM1726640 rs150355410 |
361 | N>S | liver [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1442318908 CA382176148 |
362 | I>V | No |
ClinGen gnomAD |
|
|
rs117996746 CA382176123 |
365 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA382176126 rs1242176268 |
365 | F>S | No |
ClinGen gnomAD |
|
|
rs765813020 CA6205585 |
366 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765813020 CA225100220 |
366 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6205584 rs755592114 |
367 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA382176110 rs1565216101 |
368 | N>Y | No |
ClinGen Ensembl |
|
|
CA225100219 rs568415689 |
369 | Y>H | No |
ClinGen Ensembl |
|
|
rs754242670 CA6205583 |
370 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs761306853 CA6205581 |
372 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA382176075 rs1314692209 |
373 | L>R | No |
ClinGen gnomAD |
|
|
rs1591157097 CA382176073 |
374 | K>E | No |
ClinGen Ensembl |
|
|
CA382176061 rs1363891695 |
375 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA382176062 rs1363891695 |
375 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1429865073 CA382176051 |
377 | Y>H | No |
ClinGen gnomAD |
|
|
RCV000904575 rs762479722 CA6205576 |
378 | M>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA382176033 rs1428827432 |
379 | R>T | No |
ClinGen TOPMed |
|
|
CA225100218 rs867895745 |
380 | D>E | No |
ClinGen Ensembl |
|
|
CA382176011 rs1422236872 |
382 | E>A | No |
ClinGen gnomAD |
|
|
CA6205575 rs569629223 |
387 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6205574 COSM932296 rs769693580 |
388 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1313054377 CA382179585 |
389 | V>F | No |
ClinGen Ensembl |
|
|
rs766593430 CA6205558 |
393 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6205557 rs756522711 |
394 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA6205555 rs763770414 |
395 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6205554 rs762638164 |
399 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA382179519 rs1203529053 |
400 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 401 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382179485 rs1264913965 |
405 | G>V | No |
ClinGen gnomAD |
|
|
CA6205552 rs555887966 |
407 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 409 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1344809594 COSM1177193 CA382179449 |
411 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA382179448 rs1288386526 |
411 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs368911815 CA6205551 |
412 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382179444 rs1591121857 |
412 | Y>H | No |
ClinGen Ensembl |
|
|
rs770595074 CA6205550 |
413 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770595074 CA6205549 |
413 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779128703 CA6205548 |
416 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779128703 CA6205547 |
416 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140045230 CA6205546 |
418 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382179386 rs1179045311 |
421 | R>G | No |
ClinGen gnomAD |
|
|
rs780046589 CA6205523 |
421 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs746425351 COSM932293 CA6205521 |
422 | S>L | kidney Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6205522 rs746425351 |
422 | S>W | No |
ClinGen ExAC gnomAD |
|
|
rs1361086952 CA382179353 |
423 | G>A | No |
ClinGen gnomAD |
|
|
CA225096961 rs1055661236 |
423 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs757629152 CA6205519 |
424 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs752308644 CA6205518 |
425 | T>K | No |
ClinGen ExAC |
|
|
CA382179334 rs1328136067 |
425 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 429 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA382178513 rs1169376721 |
431 | Y>C | No |
ClinGen gnomAD |
|
|
CA6205493 rs370150532 |
431 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767527813 CA6205492 |
432 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA225096453 rs1016793927 |
434 | L>F | No |
ClinGen Ensembl |
|
|
CA6205490 RCV001008682 rs751383065 |
436 | R>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs146549914 CA6205489 |
436 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382178423 rs775587143 |
439 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6205487 rs775587143 |
439 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759504704 CA6205485 |
440 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs759504704 CA382178410 |
440 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs771416192 CA6205483 |
442 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771416192 CA6205484 |
442 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771416192 CA382178379 |
442 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224601174 CA382178335 |
445 | F>L | No |
ClinGen gnomAD |
|
|
rs953849956 CA382178318 |
447 | M>L | No |
ClinGen Ensembl |
|
|
CA225096452 rs953849956 |
447 | M>V | No |
ClinGen Ensembl |
|
| TCGA novel | 448 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6205482 rs763968262 |
451 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1336550340 CA382178254 |
451 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 451 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772340741 CA382178243 |
452 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772340741 CA6205480 |
452 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6205481 rs773503634 |
452 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs748924320 CA6205479 |
455 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1220621549 CA382178190 |
456 | I>T | No |
ClinGen gnomAD |
|
|
rs569727215 CA6205477 |
457 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6205475 rs780902837 |
459 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs375595759 CA6205476 |
459 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA382178133 rs1234255594 |
461 | N>D | No |
ClinGen gnomAD |
|
|
rs549806314 CA6205474 |
461 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1193160852 CA382178105 |
463 | K>E | No |
ClinGen TOPMed |
|
|
rs777565298 CA6205472 |
463 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs751546716 CA6205473 |
463 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA6205471 rs758149157 |
466 | I>T | No |
ClinGen ExAC |
|
|
CA225096451 rs989459801 |
467 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1261863895 CA382178013 |
470 | R>G | No |
ClinGen gnomAD |
|
|
CA6205468 rs532947806 |
473 | H>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1281475758 CA382177946 |
474 | S>L | No |
ClinGen gnomAD |
|
|
rs900855513 CA382177922 |
476 | L>H | No |
ClinGen gnomAD |
|
|
rs900855513 CA225096450 |
476 | L>P | No |
ClinGen gnomAD |
2 associated diseases with Q96I59
[MIM: 616239]: Combined oxidative phosphorylation deficiency 24 (COXPD24)
An autosomal recessive mitochondrial disorder with wide phenotypic variability. Some patients have a milder form affecting only skeletal muscle, whereas others may have a more severe disorder, reminiscent of Alpers syndrome. Alpers syndrome is a progressive neurodegenerative disorder that presents in infancy or early childhood and is characterized by diffuse degeneration of cerebral gray matter. {ECO:0000269|PubMed:25385316, ECO:0000269|PubMed:25629079, ECO:0000269|PubMed:25807530, ECO:0000269|PubMed:35558980}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 618434]: Deafness, autosomal recessive, 94 (DFNB94)
A form of non-syndromic, sensorineural deafness characterized by prelingual, profound, bilateral hearing impairment. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:25807530}. Note=The disease may be caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive mitochondrial disorder with wide phenotypic variability. Some patients have a milder form affecting only skeletal muscle, whereas others may have a more severe disorder, reminiscent of Alpers syndrome. Alpers syndrome is a progressive neurodegenerative disorder that presents in infancy or early childhood and is characterized by diffuse degeneration of cerebral gray matter. {ECO:0000269|PubMed:25385316, ECO:0000269|PubMed:25629079, ECO:0000269|PubMed:25807530, ECO:0000269|PubMed:35558980}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of non-syndromic, sensorineural deafness characterized by prelingual, profound, bilateral hearing impairment. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:25807530}. Note=The disease may be caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 6.1.1.22 | Ligases forming aminoacyl-tRNA and related compounds |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| mitochondrial matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| asparagine-tRNA ligase activity | Catalysis of the reaction: L-asparagine + ATP + tRNA(Asn) = AMP + Asn-tRNA(Asn) + diphosphate + 2 H(+). |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| nucleic acid binding | Binding to a nucleic acid. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| asparaginyl-tRNA aminoacylation | The process of coupling asparagine to asparaginyl-tRNA, catalyzed by asparaginyl-tRNA synthetase. The asparaginyl-tRNA synthetase is a class-II synthetase. The activated amino acid is transferred to the 3'-OH group of an asparagine-accetping tRNA. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P25345 | SLM5 | Asparagine--tRNA ligase, mitochondrial | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q8BGV0 | Nars2 | Probable asparagine--tRNA ligase, mitochondrial | Mus musculus (Mouse) | PR |
| Q9SW95 | SYNC2 | Asparagine--tRNA ligase, cytoplasmic 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLGVRCLLRS | VRFCSSAPFP | KHKPSAKLSV | RDALGAQNAS | GERIKIQGWI | RSVRSQKEVL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FLHVNDGSSL | ESLQVVADSG | LDSRELNFGS | SVEVQGQLIK | SPSKRQNVEL | KAEKIKVIGN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CDAKDFPIKY | KERHPLEYLR | QYPHFRCRTN | VLGSILRIRS | EATAAIHSFF | KDSGFVHIHT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PIITSNDSEG | AGELFQLEPS | GKLKVPEENF | FNVPAFLTVS | GQLHLEVMSG | AFTQVFTFGP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TFRAENSQSR | RHLAEFYMIE | AEISFVDSLQ | DLMQVIEELF | KATTMMVLSK | CPEDVELCHK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FIAPGQKDRL | EHMLKNNFLI | ISYTEAVEIL | KQASQNFTFT | PEWGADLRTE | HEKYLVKHCG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NIPVFVINYP | LTLKPFYMRD | NEDGPQHTVA | AVDLLVPGVG | ELFGGGLREE | RYHFLEERLA |
| 430 | 440 | 450 | 460 | 470 | |
| RSGLTEVYQW | YLDLRRFGSV | PHGGFGMGFE | RYLQCILGVD | NIKDVIPFPR | FPHSCLL |