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.V188I

c.562G>A

Surrounding Variants

1 paper

NM_002047.4

p.K190R

c.569A>G

4 papers

NM_002047.4

p.L183P

c.548T>C

1 paper

NM_002047.4

p.M182I

c.546G>A

1 paper

NM_002047.4

p.M182I

c.546G>C

1 paper

NM_002047.4

p.M182I

c.546G>T

1 paper

NM_002047.4

p.C180W

c.540C>G

1 paper

NM_002047.4

p.Q171L

c.512A>T

1 paper

NM_002047.4

p.Q171K

c.511C>A

1 paper

NM_002047.4

p.Q167K

c.499C>A

1 paper

NM_002047.4

p.P152L

c.455C>T

1 paper

NM_002047.4

p.F150_P152del0

c.448_456del9

1 paper

NM_002047.4

p.L147Q

c.440T>A