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

19 papers

NM_006567.5

p.D325Y

c.973G>T

Surrounding Variants

1 paper

NM_006567.5

p.D325N

c.973G>A

2 papers

NM_006567.5

p.Y324C

c.971A>G

1 paper

NM_006567.5

p.L323F

c.967C>T

19 papers

NM_006567.5

p.I329T

c.986T>C

3 papers

NM_006567.5

p.R330C

c.988C>T

1 paper

NM_006567.5

p.A320del1

c.958_959delGCC

7 papers

NM_006567.5

p.R330H

c.989G>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.E337K

c.1009G>A

1 paper

NM_006567.5

p.R338H

c.1013G>A

1 paper

NM_006567.5

p.A311G

c.932C>G