Varaico: Literature-Extracted Genetic Variants

FARS2

199 papers

RefSeq Summary

This gene encodes a protein that transfers phenylalanine to its cognate tRNA. This protein localizes to the mitochondrion and plays a role in mitochondrial protein translation. Mutations in this gene ...

Pfam Domains

tRNA-synt_2daa 70–209UCSCtRNA synthetases class II core domain (F)

tRNA-synt_2daa 219–343UCSCtRNA synthetases class II core domain (F)

FDX-ACBaa 358–450UCSCFerredoxin-fold anticodon binding domain

Gene Aliases

HGNC Name

phenylalanyl-tRNA synthetase 2, mitochondrial

HGNC Previous Symbol

FARS1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_006567.5

p.L129P

c.386T>C

Surrounding Variants

1 paper

NM_006567.5

p.D127Y

c.379G>T

1 paper

NM_006567.5

p.D134insFs

c.401dupA

15 papers

NM_006567.5

p.H135D

c.403C>G

1 paper

NM_006567.5

p.H135Q

c.405C>A

1 paper

NM_006567.5

p.H135Q

c.405C>G

12 papers

NM_006567.5

p.P136H

c.407C>A

1 paper

NM_006567.5

p.S137G

c.409A>G

1 paper

NM_006567.5

p.T121A

c.361A>G

1 paper

NM_006567.5

p.V120I

c.358G>A

1 paper

NM_006567.5

p.V119A

c.356T>C

1 paper

NM_006567.5

p.V120_T121del0

c.358_363del6

1 paper

NM_006567.5

p.V119_V120del2

c.355_359del6