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.F138Y

c.413T>A

Surrounding Variants

1 paper

NM_002047.4

p.Y141S

c.422A>C

2 papers

NM_002047.4

p.D135G

c.404A>G

1 paper

NM_002047.4

p.D135insFs

c.403_404insT

1 paper

NM_002047.4

p.G142E

c.425G>A

1 paper

NM_002047.4

p.R131_F132insFs

c.391_394dup4

1 paper

NM_002047.4

p.L128P

c.383T>C

2 papers

NM_002047.4

p.L128R

c.383T>G

1 paper

NM_002047.4

p.T127S

c.379A>T

5 papers

NM_002047.4

p.E125G

c.374A>G

3 papers

NM_002047.4

p.E125K

c.373G>A

1 paper

NM_002047.4

p.M124_K129delFs

c.372_387del16

2 papers

NM_002047.4

p.K123_M124insG

c.367_371ins3