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.Y365Y

c.1095T>C

Surrounding Variants

1 paper

NM_138395.4

p.Y365C

c.1094A>G

1 paper

NM_138395.4

p.V367M

c.1099G>A

1 paper

NM_138395.4

p.T360S

c.1079C>G

1 paper

NM_138395.4

p.T360S

c.1078A>T

1 paper

NM_138395.4

p.D357A

c.1070A>C

1 paper

NM_138395.4

p.G378A

c.1133G>C

1 paper

NM_138395.4

p.D385H

c.1153G>C

1 paper

NM_138395.4

p.V391V

c.1173G>C

1 paper

NM_138395.4

p.E398*

c.1192G>T

2 papers

NM_138395.4

p.M329T

c.986T>C

1 paper

NM_138395.4

p.I318N

c.953T>A

1 paper

NM_138395.4

p.E419*

c.1255G>T