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

14 papers

NM_006567.5

p.P85A

c.253C>G

Surrounding Variants

1 paper

NM_006567.5

p.H84Q

c.252C>A

1 paper

NM_006567.5

p.H84Q

c.252C>G

7 papers

NM_006567.5

p.H84P

c.251A>C

1 paper

NM_006567.5

p.W87*

c.260G>A

1 paper

NM_006567.5

p.W87*

c.261G>A

1 paper

NM_006567.5

p.L88L

c.264G>A

1 paper

NM_006567.5

p.K90E

c.268A>G

1 paper

NM_006567.5

p.H79Y

c.235C>T

1 paper

NM_006567.5

p.L78L

c.232C>T

1 paper

NM_006567.5

p.E95K

c.283G>A

1 paper

NM_006567.5

p.K99R

c.296A>G

4 papers

NM_006567.5

p.Q100*

c.298C>T