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

7 papers

NM_004990.4

p.F370L

c.1110C>A

Surrounding Variants

7 papers

NM_004990.4

p.F370L

c.1110C>G

7 papers

NM_004990.4

p.F370L

c.1108T>C

1 paper

NM_004990.4

p.D368D

c.1104C>T

1 paper

NM_004990.4

p.R376*

c.1126C>T

1 paper

NM_004990.4

p.R388*

c.1162C>T

2 papers

NM_004990.4

p.C389Y

c.1166G>A

10 papers

NM_004990.4

p.A393T

c.1177G>A

1 paper

NM_004990.4

p.A393V

c.1178C>T

1 paper

NM_004990.4

p.L396L

c.1188G>A

4 papers

NM_004990.4

p.A397T

c.1189G>A

1 paper

NM_004990.4

p.R399C

c.1195C>T

5 papers

NM_004990.4

p.V401M

c.1201G>A