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.I523T

c.1568T>C

Surrounding Variants

1 paper

NM_004990.4

p.A521T

c.1561G>A

1 paper

NM_004990.4

p.W518*

c.1553G>A

3 papers

NM_004990.4

p.Y516C

c.1547A>G

1 paper

NM_004990.4

p.R483H

c.1448G>A

10 papers

NM_004990.4

p.S567L

c.1700C>T

1 paper

NM_004990.4

p.E463G

c.1388A>G

1 paper

NM_004990.4

p.E585Splc

c.1753+7A>G

1 paper

NM_004990.4

p.E590G

c.1769A>G

1 paper

NM_004990.4

p.K596Q

c.1786A>C

5 papers

NM_004990.4

p.R598C

c.1792C>T

5 papers

NM_004990.4

p.R598H

c.1793G>A

1 paper

NM_004990.4

p.G604E

c.1811G>A