Varaico: Literature-Extracted Genetic Variants

GARS1

195 papers

RefSeq Summary

This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II ...

Pfam Domains

WHEP-TRSaa 67–117UCSCWHEP-TRS domain

tRNA-synt_2baa 292–592UCSCtRNA synthetase class II core domain (G, H, P, S and T)

HGTP_anticodonaa 615–709UCSCAnticodon binding domain

Gene Aliases

HGNC Name

glycyl-tRNA synthetase 1

HGNC Previous Symbol

CMT2D

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002047.4

p.G580S

c.1738G>A

Surrounding Variants

4 papers

NM_002047.4

p.G580R

c.1738G>C

1 paper

NM_002047.4

p.M585T

c.1754T>C

2 papers

NM_002047.4

p.P572L

c.1715C>T

1 paper

NM_002047.4

p.V571A

c.1712T>C

1 paper

NM_002047.4

p.E569K

c.1705G>A

1 paper

NM_002047.4

p.R596G

c.1786C>G

2 papers

NM_002047.4

p.R596Q

c.1787G>A

17 papers

NM_002047.4

p.G598A

c.1793G>C

1 paper

NM_002047.4

p.Y566S

c.1697A>C

1 paper

NM_002047.4

p.V558M

c.1672G>A

2 papers

NM_002047.4

p.M555V

c.1663A>G

3 papers

NM_002047.4

p.D554N

c.1660G>A