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

1–12 of 259 variants

42 papers

NM_001605.3

p.R329H

c.986G>A

26 papers

NM_001605.3

p.N71Y

c.211A>T

16 papers

NM_001605.3

p.G102R

c.304G>C

16 papers

NM_001605.3

p.D893N

c.2677G>A

15 papers

NM_001605.3

p.A734E

c.2201C>A

15 papers

NM_001605.3

p.E778A

c.2333A>C

14 papers

NM_001605.3

p.R751G

c.2251A>G

13 papers

NM_001605.3

p.E688G

c.2063A>G

12 papers

NM_001605.3

p.R326W

c.976C>T

11 papers

NM_001605.3

p.K81T

c.242A>C

11 papers

NM_001605.3

p.E337K

c.1009G>A

11 papers

NM_001605.3

p.S627L

c.1880C>T