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.E698fs

c.2092_2093fs

Surrounding Variants

1 paper

NM_002047.4

p.A697delFs

c.2091delA

1 paper

NM_002047.4

p.E698D

c.2094G>C

2 papers

NM_002047.4

p.R689C

c.2065C>T

1 paper

NM_002047.4

p.D688G

c.2063A>G

1 paper

NM_002047.4

p.P681L

c.2042C>T

1 paper

NM_002047.4

p.G669S

c.2005G>A

3 papers

NM_002047.4

p.G652E

c.1955G>A

6 papers

NM_002047.4

p.G652A

c.1955G>C

NM_001316772.1

p.G598A

c.1793G>C

3 papers

NM_002047.4

p.G652R

c.1954G>A

3 papers

NM_002047.4

p.G652R

c.1954G>C

1 paper

NM_002047.4

p.V643I

c.1927G>A

6 papers

NM_002047.4

p.S635L

c.1904C>T