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

1–12 of 134 variants

13 papers

NM_004990.4

p.R618C

c.1852C>T

13 papers

NM_004990.4

p.P800T

c.2398C>A

10 papers

NM_004990.4

p.A393T

c.1177G>A

10 papers

NM_004990.4

p.S567L

c.1700C>T

7 papers

NM_004990.4

p.F370L

c.1108T>C

7 papers

NM_004990.4

p.F370L

c.1110C>A

7 papers

NM_004990.4

p.F370L

c.1110C>G

6 papers

NM_004990.4

p.V5M

c.13G>A

6 papers

NM_004990.4

p.Y344C

c.1031A>G

6 papers

NM_004990.4

p.I523T

c.1568T>C

6 papers

NM_004990.4

p.D605V

c.1814A>T

6 papers

NM_004990.4

p.R702W

c.2104C>T