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.Y101C

c.302A>G

Surrounding Variants

1 paper

NM_006567.5

p.Y101F

c.302A>T

4 papers

NM_006567.5

p.Q100*

c.298C>T

1 paper

NM_006567.5

p.K99R

c.296A>G

1 paper

NM_006567.5

p.G103V

c.308G>T

1 paper

NM_006567.5

p.R104C

c.310C>T

1 paper

NM_006567.5

p.G106G

c.318G>A

1 paper

NM_006567.5

p.E95K

c.283G>A

1 paper

NM_006567.5

p.P108L

c.323C>T

1 paper

NM_006567.5

p.K90E

c.268A>G

1 paper

NM_006567.5

p.L88L

c.264G>A

1 paper

NM_006567.5

p.W87*

c.261G>A

1 paper

NM_006567.5

p.W87*

c.260G>A