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.N365N

c.1095T>C

Surrounding Variants

1 paper

NM_006567.5

p.N365S

c.1094A>G

21 papers

NM_006567.5

p.P361L

c.1082C>T

6 papers

NM_006567.5

p.L371F

c.1113G>C

1 paper

NM_006567.5

p.P372insFs

c.1116dupC

7 papers

NM_006567.5

p.L371F

c.1113G>T

1 paper

NM_006567.5

p.S373C

c.1118C>G

1 paper

NM_006567.5

p.D380Y

c.1138G>T

9 papers

NM_006567.5

p.R386G

c.1156C>G

2 papers

NM_006567.5

p.R386Q

c.1157G>A

2 papers

NM_006567.5

p.I388S

c.1163T>G

17 papers

NM_006567.5

p.D391V

c.1172A>T

1 paper

NM_006567.5

p.K395E

c.1183A>G