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

12 papers

NM_002047.4

p.S265F

c.794C>T

Surrounding Variants

5 papers

NM_002047.4

p.S265Y

c.794C>A

1 paper

NM_002047.4

p.V263I

c.787G>A

5 papers

NM_002047.4

p.T268I

c.803C>T

4 papers

NM_002047.4

p.L272Q

c.815T>A

5 papers

NM_002047.4

p.L272R

c.815T>G

1 paper

NM_002047.4

p.D256H

c.766G>C

1 paper

NM_002047.4

p.A255V

c.764C>T

2 papers

NM_002047.4

p.E253delFs

c.757delG

1 paper

NM_002047.4

p.M281K

c.842T>A

2 papers

NM_002047.4

p.M281I

c.843G>A

2 papers

NM_002047.4

p.M281I

c.843G>C

2 papers

NM_002047.4

p.M281I

c.843G>T