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.N968K

c.2904C>G

Surrounding Variants

1 paper

NM_001605.3

p.N968K

c.2904C>A

2 papers

NM_001605.3

p.K967M

c.2900A>T

4 papers

NM_001605.3

p.F958S

c.2873T>C

1 paper

NM_001605.3

p.C947del1

c.2839_2840delGCA

1 paper

NM_001605.3

p.A940V

c.2819C>T

8 papers

NM_001605.3

p.G931S

c.2791G>A

9 papers

NM_001605.3

p.G913D

c.2738G>A

1 paper

NM_001605.3

p.N911S

c.2732A>G

1 paper

NM_001605.3

p.Q907_N908Splc

c.2722-3T>C

1 paper

NM_001605.3

p.Q907insFs

c.2719dupC

1 paper

NM_001605.3

p.V905V

c.2715T>C

3 papers

NM_001605.3

p.C901Y

c.2702G>A