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

2 papers

NM_004990.4

p.L705insFs

c.2114dupT

Surrounding Variants

6 papers

NM_004990.4

p.R702W

c.2104C>T

1 paper

NM_004990.4

p.R713Q

c.2138G>A

3 papers

NM_004990.4

p.Q720*

c.2158C>T

2 papers

NM_004990.4

p.R727Q

c.2180G>A

1 paper

NM_004990.4

p.E732K

c.2194G>A

3 papers

NM_004990.4

p.E688G

c.2063A>G

2 papers

NM_004990.4

p.R737W

c.2209C>T

1 paper

NM_004990.4

p.L674P

c.2021T>C

1 paper

NM_004990.4

p.S662A

c.1984T>G

1 paper

NM_004990.4

p.Q794R

c.2381A>G

1 paper

NM_004990.4

p.T797_V798Splc

c.2391+3A>G

13 papers

NM_004990.4

p.P800T

c.2398C>A