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.H605Q

c.1815C>G

Surrounding Variants

1 paper

NM_001605.3

p.H605Q

c.1815C>A

2 papers

NM_001605.3

p.T606I

c.1817C>T

4 papers

NM_001605.3

p.N604K

c.1812C>G

4 papers

NM_001605.3

p.N604K

c.1812C>A

1 paper

NM_001605.3

p.N604S

c.1811A>G

4 papers

NM_001605.3

p.T608M

c.1823C>T

1 paper

NM_001605.3

p.T608K

c.1823C>A

1 paper

NM_001605.3

p.H609R

c.1826A>G

1 paper

NM_001605.3

p.G620V

c.1859G>T

11 papers

NM_001605.3

p.S627L

c.1880C>T

1 paper

NM_001605.3

p.P631R

c.1892C>G

1 paper

NM_001605.3

p.L634P

c.1901T>C