Varaico: Literature-Extracted Genetic Variants

MARS2

75 papers

RefSeq Summary

This gene produces a mitochondrial methionyl-tRNA synthetase protein that is encoded by the nuclear genome and imported to the mitochondrion. This protein likely functions as a monomer and is predicte...

Pfam Domains

tRNA-synt_1gaa 45–411UCSCtRNA synthetases class I (M)

Anticodon_3aa 437–549UCSCAnticodon binding domain of methionyl tRNA ligase

Gene Aliases

HGNC Name

methionyl-tRNA synthetase 2, mitochondrial

HGNC Alias Symbols

mtMetRS; SPAX3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_138395.4

p.E94*

c.280G>T

Surrounding Variants

1 paper

NM_138395.4

p.D93N

c.277G>A

1 paper

NM_138395.4

p.L67V

c.199C>G

1 paper

NM_138395.4

p.F125V

c.373T>G

1 paper

NM_138395.4

p.C132S

c.394T>A

1 paper

NM_138395.4

p.C132S

c.395G>C

2 papers

NM_138395.4

p.F52L

c.156C>A

2 papers

NM_138395.4

p.F52L

c.156C>G

1 paper

NM_138395.4

p.I136F

c.406A>T

2 papers

NM_138395.4

p.F52L

c.154T>C

1 paper

NM_138395.4

p.R137C

c.409C>T

1 paper

NM_138395.4

p.P50P

c.150C>T

3 papers

NM_138395.4

p.R142W

c.424C>T