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

3 papers

NM_001605.3

p.T726A

c.2176A>G

Surrounding Variants

1 paper

NM_001605.3

p.T726M

c.2177C>T

4 papers

NM_001605.3

p.R729W

c.2185C>T

1 paper

NM_001605.3

p.S731L

c.2192C>T

15 papers

NM_001605.3

p.A734E

c.2201C>A

1 paper

NM_001605.3

p.T741M

c.2222C>T

1 paper

NM_001605.3

p.A746fs

c.2236_2237fs

14 papers

NM_001605.3

p.R751G

c.2251A>G

3 papers

NM_001605.3

p.T756I

c.2267C>T

2 papers

NM_001605.3

p.E759K

c.2275G>A

1 paper

NM_001605.3

p.K762fs

c.2284_2285fs

7 papers

NM_001605.3

p.K762K

c.2286G>A

3 papers

NM_001605.3

p.A763fs

c.2287_2288fs