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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CARS1

Variant:p.M1T

CARS1

51 papers

RefSeq Summary

This gene encodes a class 1 aminoacyl-tRNA synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting fam...

Pfam Domains

tRNA-synt_1eaa 54–467UCSCtRNA synthetases class I (C) catalytic domain

Gene Aliases

HGNC Name

cysteinyl-tRNA synthetase 1

HGNC Previous Name

cysteinyl-tRNA synthetase

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr11:3057366 A>G

NM_001014437.3

p.M1T

c.2T>C

Exome: 0.0% (AC=2, hom=0)Genome: n/a4 overlapping SVs

Surrounding Variants

1 paper

chr11:3047905 T>C

NM_001014437.3

p.Y41C

c.122A>G

Exome: 0.0% (AC=2, hom=0)Genome: n/a3 overlapping SVs

1 paper

chr11:3047885 C>T

NM_001014437.3

p.V48M

c.142G>A

Exome: 0.0% (AC=31, hom=0)Genome: 0.0% (AC=7, hom=0)3 overlapping SVs

1 paper

chr11:3047879 C>T

NM_001014437.3

p.A50T

c.148G>A

Exome: 0.0% (AC=24, hom=0)Genome: 0.0% (AC=2, hom=0)3 overlapping SVs

1 paper

chr11:3047878 G>C

NM_001014437.3

p.A50G

c.149C>G

Exome: n/aGenome: 0.0% (AC=1, hom=0)3 overlapping SVs

1 paper

chr11:3047860 G>A

NM_001014437.3

p.A56V

c.167C>T

exact variant not in gnomAD3 overlapping SVs

1 paper

chr11:3047795 C>T

NM_001014437.3

p.G78S

c.232G>A

exact variant not in gnomAD3 overlapping SVs

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