Varaico: Literature-Extracted Genetic Variants

MARS1

151 papers

RefSeq Summary

This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. The encoded...

Pfam Domains

GST_N_5aa 1–74UCSCGlutathione S-transferase, N-terminal domain

GST_Caa 85–180UCSCGlutathione S-transferase, C-terminal domain

tRNA-synt_1gaa 266–658UCSCtRNA synthetases class I (M)

Anticodon_3aa 669–822UCSCAnticodon binding domain of methionyl tRNA ligase

WHEP-TRSaa 845–897UCSCWHEP-TRS domain

Gene Aliases

HGNC Name

methionyl-tRNA synthetase 1

HGNC Alias Symbols

MetRS; SPG70; CMT2U

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004990.4

p.R2G

c.4A>G

Surrounding Variants

1 paper

NM_004990.4

p.M1V

c.1A>G

1 paper

NM_004990.4

p.M1insFs

c.1dupA

6 papers

NM_004990.4

p.V5M

c.13G>A

1 paper

NM_004990.4

p.V5V

c.15G>A

1 paper

NM_004990.4

p.S6N

c.17G>A

1 paper

NM_004990.4

p.P10P

c.30G>T

1 paper

NM_004990.4

p.G11S

c.31G>A

1 paper

NM_004990.4

p.C12Y

c.35G>A

1 paper

NM_004990.4

p.C12S

c.35G>C

1 paper

NM_004990.4

p.L13S

c.38T>C

1 paper

NM_004990.4

p.P14S

c.40C>T

1 paper

NM_004990.4

p.P14R

c.41C>G