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.Q438_E439insG

c.1312_1316ins3

Surrounding Variants

1 paper

NM_006567.5

p.E439Q

c.1315G>C

1 paper

NM_006567.5

p.Q443H

c.1329G>C

1 paper

NM_006567.5

p.Q443H

c.1329G>T

1 paper

NM_006567.5

p.Q427ins1

c.1279_1280insTCC

4 papers

NM_006567.5

p.S426F

c.1277C>T

4 papers

NM_006567.5

p.L425L

c.1275G>C

4 papers

NM_006567.5

p.R423Q

c.1268G>A

3 papers

NM_006567.5

p.R423_S426insFs

c.1269_1276dup8

1 paper

NM_006567.5

p.R423_S426delFs

c.1269_1276del8

1 paper

NM_006567.5

p.R423W

c.1267C>T

13 papers

NM_006567.5

p.R419H

c.1256G>A

14 papers

NM_006567.5

p.R419C

c.1255C>T