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

4 papers

NM_002047.4

p.P298L

c.893C>T

Surrounding Variants

1 paper

NM_002047.4

p.P298_Q302del0

c.894_905del12

1 paper

NM_002047.4

p.R297K

c.890G>A

1 paper

NM_002047.4

p.Y295N

c.883T>A

1 paper

NM_002047.4

p.Y295D

c.883T>G

1 paper

NM_002047.4

p.Q302*

c.904C>T

2 papers

NM_002047.4

p.R310Q

c.929G>A

6 papers

NM_002047.4

p.G327R

c.979G>A

6 papers

NM_002047.4

p.G327R

c.979G>C

1 paper

NM_002047.4

p.E333Q

c.997G>C

2 papers

NM_002047.4

p.E333G

c.998A>G

5 papers

NM_002047.4

p.E333D

c.999G>C

5 papers

NM_002047.4

p.E333D

c.999G>T