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.V206E

c.617T>A

Surrounding Variants

1 paper

NM_002047.4

p.V206L

c.616G>T

1 paper

NM_002047.4

p.D205G

c.614A>G

2 papers

NM_002047.4

p.C211R

c.631T>C

NM_001316772.1

p.C157R

c.469T>C

21 papers

NM_002047.4

p.D200N

c.598G>A

5 papers

NM_002047.4

p.D200Y

c.598G>T

2 papers

NM_002047.4

p.F198S

c.593T>C

3 papers

NM_002047.4

p.D215H

c.643G>C

6 papers

NM_002047.4

p.H216R

c.647A>G

1 paper

NM_002047.4

p.T191S

c.572C>G

1 paper

NM_002047.4

p.T191S

c.571A>T

1 paper

NM_002047.4

p.K190R

c.569A>G

1 paper

NM_002047.4

p.V188I

c.562G>A