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

2 papers

NM_001605.3

p.F110L

c.330T>A

Surrounding Variants

2 papers

NM_001605.3

p.F110L

c.330T>G

2 papers

NM_001605.3

p.F110L

c.328T>C

1 paper

NM_001605.3

p.Y109H

c.325T>C

1 paper

NM_001605.3

p.G107E

c.320G>A

1 paper

NM_001605.3

p.S105A

c.313T>G

1 paper

NM_001605.3

p.W104insFs

c.310_311insC

1 paper

NM_001605.3

p.W104insFs

c.310_311insA

1 paper

NM_001605.3

p.W104R

c.310T>C

1 paper

NM_001605.3

p.S103_W104ins1

c.309_310insCCT

16 papers

NM_001605.3

p.G102R

c.304G>C

4 papers

NM_001605.3

p.E99G

c.296A>G

1 paper

NM_001605.3

p.T96_F97del2

c.286_290del6