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.F297L

c.889T>C

Surrounding Variants

1 paper

NM_138395.4

p.F297L

c.891C>A

1 paper

NM_138395.4

p.F297L

c.891C>G

1 paper

NM_138395.4

p.T304T

c.912C>T

1 paper

NM_138395.4

p.G309S

c.925G>A

1 paper

NM_138395.4

p.I276L

c.826A>C

1 paper

NM_138395.4

p.I318N

c.953T>A

2 papers

NM_138395.4

p.M329T

c.986T>C

1 paper

NM_138395.4

p.S254P

c.760T>C

1 paper

NM_138395.4

p.D357A

c.1070A>C

1 paper

NM_138395.4

p.T360S

c.1078A>T

1 paper

NM_138395.4

p.T360S

c.1079C>G

1 paper

NM_138395.4

p.Y365C

c.1094A>G