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

7 papers

NM_006567.5

p.V174_G175del1

c.521_523delTGG

Surrounding Variants

1 paper

NM_006567.5

p.D169V

c.506A>T

1 paper

NM_006567.5

p.L168fs

c.502_503fs

8 papers

NM_006567.5

p.V177D

c.530T>A

1 paper

NM_006567.5

p.A166T

c.496G>A

2 papers

NM_006567.5

p.A166insFs

c.497dupC

1 paper

NM_006567.5

p.R180H

c.539G>A

1 paper

NM_006567.5

p.D181N

c.541G>A

1 paper

NM_006567.5

p.D181G

c.542A>G

3 papers

NM_006567.5

p.Q160R

c.479A>G

4 papers

NM_006567.5

p.D184N

c.550G>A

1 paper

NM_006567.5

p.D184Y

c.550G>T

8 papers

NM_006567.5

p.H159P

c.476A>C