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.G3S

c.7G>A

Surrounding Variants

1 paper

NM_006567.5

p.G3V

c.8G>T

1 paper

NM_006567.5

p.S4P

c.10T>C

1 paper

NM_006567.5

p.M1K

c.2T>A

1 paper

NM_006567.5

p.M1R

c.2T>G

1 paper

NM_006567.5

p.M1L

c.1A>C

1 paper

NM_006567.5

p.M1V

c.1A>G

1 paper

NM_006567.5

p.L6fs

c.16_17fs

1 paper

NM_006567.5

p.L6P

c.17T>C

1 paper

NM_006567.5

p.R7S

c.21G>C

1 paper

NM_006567.5

p.R7S

c.21G>T

4 papers

NM_006567.5

p.A12T

c.34G>A

1 paper

NM_006567.5

p.A12P

c.34G>C