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.S478R

c.1434C>G

Surrounding Variants

1 paper

NM_138395.4

p.S478R

c.1434C>A

1 paper

NM_138395.4

p.S478R

c.1432A>C

1 paper

NM_138395.4

p.Y470D

c.1408T>G

1 paper

NM_138395.4

p.R468fs

c.1402_1403fs

1 paper

NM_138395.4

p.R489S

c.1467G>T

1 paper

NM_138395.4

p.R468delFs

c.1402_1403delCG

1 paper

NM_138395.4

p.F467Y

c.1400T>A

1 paper

NM_138395.4

p.R518Q

c.1553G>A

1 paper

NM_138395.4

p.F520delFs

c.1558_1559delTT

1 paper

NM_138395.4

p.F520fs

c.1558_1559fs

1 paper

NM_138395.4

p.T522N

c.1565C>A

1 paper

NM_138395.4

p.P526_A532delFs

c.1578_1596del19