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

1–12 of 75 variants

3 papers

NM_138395.4

p.R142W

c.424C>T

3 papers

NM_138395.4

p.Q184*

c.550C>T

3 papers

NM_138395.4

p.A532G

c.1595C>G

3 papers

NM_138395.4

p.R592W

c.1774C>T

2 papers

NM_138395.4

p.F52L

c.154T>C

2 papers

NM_138395.4

p.F52L

c.156C>A

2 papers

NM_138395.4

p.F52L

c.156C>G

2 papers

NM_138395.4

p.M329T

c.986T>C

1 paper

NM_138395.4

p.M1insFs

c.1dupA

1 paper

NM_138395.4

p.M1T

c.2T>C

1 paper

NM_138395.4

p.L2R

c.5T>G

1 paper

NM_138395.4

p.P26R

c.77C>G