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

1–12 of 185 variants

33 papers

NM_006567.5

p.Y144C

c.431A>G

22 papers

NM_006567.5

p.D142Y

c.424G>T

21 papers

NM_006567.5

p.P361L

c.1082C>T

20 papers

NM_006567.5

p.G309S

c.925G>A

19 papers

NM_006567.5

p.D325Y

c.973G>T

19 papers

NM_006567.5

p.I329T

c.986T>C

17 papers

NM_006567.5

p.D391V

c.1172A>T

15 papers

NM_006567.5

p.H135D

c.403C>G

14 papers

NM_006567.5

p.P85A

c.253C>G

14 papers

NM_006567.5

p.R419C

c.1255C>T

13 papers

NM_006567.5

p.R419H

c.1256G>A

12 papers

NM_006567.5

p.P136H

c.407C>A