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

1 paper

NM_006567.5

p.N147insFs

c.439_440insG

Surrounding Variants

1 paper

NM_006567.5

p.L146_N147insFs

c.438_439insG

33 papers

NM_006567.5

p.Y144C

c.431A>G

1 paper

NM_006567.5

p.M151T

c.452T>C

22 papers

NM_006567.5

p.D142Y

c.424G>T

9 papers

NM_006567.5

p.G141E

c.422G>A

9 papers

NM_006567.5

p.R153G

c.457A>G

1 paper

NM_006567.5

p.A154T

c.460G>A

11 papers

NM_006567.5

p.A154V

c.461C>T

11 papers

NM_006567.5

p.T156M

c.467C>T

1 paper

NM_006567.5

p.S137G

c.409A>G

12 papers

NM_006567.5

p.P136H

c.407C>A

1 paper

NM_006567.5

p.H135Q

c.405C>A