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.W205*

c.614G>A

Surrounding Variants

1 paper

NM_138395.4

p.W205*

c.615G>A

1 paper

NM_138395.4

p.P202P

c.606A>G

1 paper

NM_138395.4

p.S199N

c.596G>A

1 paper

NM_138395.4

p.G190A

c.569G>C

1 paper

NM_138395.4

p.Q184K

c.550C>A

3 papers

NM_138395.4

p.Q184*

c.550C>T

1 paper

NM_138395.4

p.G163G

c.489C>G

1 paper

NM_138395.4

p.S254P

c.760T>C

1 paper

NM_138395.4

p.V153fs

c.457_458fs

1 paper

NM_138395.4

p.W151*

c.453G>A

1 paper

NM_138395.4

p.W151*

c.452G>A

1 paper

NM_138395.4

p.W151delFs

c.452delG