Varaico: Literature-Extracted Genetic Variants

AARS1

221 papers

RefSeq Summary

The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes. Class II tRNA synthases evolved early in evolution and are highly conserved. This is reflected ...

Pfam Domains

tRNA-synt_2caa 9–597UCSCtRNA synthetases class II (A)

tRNA_SADaa 694–753UCSCThreonyl and Alanyl tRNA synthetase second additional domain

DHHA1aa 854–961UCSCDHHA1 domain

Gene Aliases

HGNC Name

alanyl-tRNA synthetase 1

HGNC Alias Symbols

CMT2N; AlaRS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001605.3

p.K81R

c.242A>G

Surrounding Variants

11 papers

NM_001605.3

p.K81T

c.242A>C

1 paper

NM_001605.3

p.G80D

c.239G>A

1 paper

NM_001605.3

p.G80S

c.238G>A

1 paper

NM_001605.3

p.G79G

c.237G>A

1 paper

NM_001605.3

p.G79R

c.235G>C

1 paper

NM_001605.3

p.A78insFs

c.232_233insG

1 paper

NM_001605.3

p.R77Q

c.230G>A

1 paper

NM_001605.3

p.T72I

c.215C>T

1 paper

NM_001605.3

p.K90R

c.269A>G

1 paper

NM_001605.3

p.S67_A70del4

c.199_209del12

26 papers

NM_001605.3

p.N71Y

c.211A>T

1 paper

NM_001605.3

p.Y93C

c.278A>G