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.L328L

c.984C>G

Surrounding Variants

2 papers

NM_001605.3

p.R329C

c.985C>T

1 paper

NM_001605.3

p.R329S

c.985C>A

42 papers

NM_001605.3

p.R329H

c.986G>A

4 papers

NM_001605.3

p.R330*

c.988C>T

1 paper

NM_001605.3

p.R326Q

c.977G>A

12 papers

NM_001605.3

p.R326W

c.976C>T

4 papers

NM_001605.3

p.R333*

c.997C>T

1 paper

NM_001605.3

p.V323M

c.967G>A

1 paper

NM_001605.3

p.Y322H

c.964T>C

11 papers

NM_001605.3

p.E337K

c.1009G>A

2 papers

NM_001605.3

p.N340S

c.1019A>G

1 paper

NM_001605.3

p.A341T

c.1021G>A