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.A311G

c.932C>G

Surrounding Variants

20 papers

NM_006567.5

p.G309S

c.925G>A

4 papers

NM_006567.5

p.G315R

c.943G>A

4 papers

NM_006567.5

p.G315R

c.943G>C

1 paper

NM_006567.5

p.R307Q

c.920G>A

1 paper

NM_006567.5

p.R307*

c.919C>T

1 paper

NM_006567.5

p.D306Y

c.916G>T

1 paper

NM_006567.5

p.A320del1

c.958_959delGCC

1 paper

NM_006567.5

p.G303R

c.907G>C

1 paper

NM_006567.5

p.A302G

c.905C>G

5 papers

NM_006567.5

p.A302Splc

c.905-1G>A

1 paper

NM_006567.5

p.L323F

c.967C>T

2 papers

NM_006567.5

p.Y324C

c.971A>G