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

6 papers

NM_004990.4

p.Y344C

c.1031A>G

Surrounding Variants

1 paper

NM_004990.4

p.D342A

c.1025A>C

1 paper

NM_004990.4

p.T328S

c.983C>G

1 paper

NM_004990.4

p.Q330insFs

c.988dupC

1 paper

NM_004990.4

p.T328S

c.982A>T

1 paper

NM_004990.4

p.A322G

c.965C>G

1 paper

NM_004990.4

p.T318A

c.952A>G

1 paper

NM_004990.4

p.Y314C

c.941A>G

3 papers

NM_004990.4

p.Y307C

c.920A>G

2 papers

NM_004990.4

p.L306_Y307delFs

c.918_919delCT

1 paper

NM_004990.4

p.R301C

c.901C>T

2 papers

NM_004990.4

p.S298ins1

c.893_894insTCG

1 paper

NM_004990.4

p.R296S

c.888G>T