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.G604E

c.1811G>A

Surrounding Variants

1 paper

NM_004990.4

p.G604G

c.1812G>A

1 paper

NM_004990.4

p.D605N

c.1813G>A

1 paper

NM_004990.4

p.D605G

c.1814A>G

6 papers

NM_004990.4

p.D605V

c.1814A>T

5 papers

NM_004990.4

p.R598H

c.1793G>A

5 papers

NM_004990.4

p.R598C

c.1792C>T

1 paper

NM_004990.4

p.K596Q

c.1786A>C

1 paper

NM_004990.4

p.I616F

c.1846A>T

13 papers

NM_004990.4

p.R618C

c.1852C>T

1 paper

NM_004990.4

p.E590G

c.1769A>G

1 paper

NM_004990.4

p.F633F

c.1899C>T

1 paper

NM_004990.4

p.R656T

c.1967G>C