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

1–12 of 189 variants

21 papers

NM_002047.4

p.D200N

c.598G>A

17 papers

NM_002047.4

p.G598A

c.1793G>C

12 papers

NM_002047.4

p.S265F

c.794C>T

6 papers

NM_002047.4

p.H216R

c.647A>G

6 papers

NM_002047.4

p.G327R

c.979G>A

6 papers

NM_002047.4

p.G327R

c.979G>C

6 papers

NM_002047.4

p.I334N

c.1001T>A

6 papers

NM_002047.4

p.S635L

c.1904C>T

6 papers

NM_002047.4

p.S635L

c.1904C>T

5 papers

NM_002047.4

p.E125G

c.374A>G

5 papers

NM_002047.4

p.D200Y

c.598G>T

5 papers

NM_002047.4

p.S265Y

c.794C>A