Varaico: Literature-Extracted Genetic Variants

FARSA

79 papers

RefSeq Summary

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a product which is similar to the catalytic subunit of prokaryotic and Saccharomyc...

Pfam Domains

PheRS_DBD1aa 2–61UCSCPheRS DNA binding domain 1

PheRS_DBD3aa 75–132UCSCPheRS DNA binding domain 3

PheRS_DBD2aa 134–166UCSCPheRS DNA binding domain 2

tRNA-synt_2daa 209–488UCSCtRNA synthetases class II core domain (F)

Gene Aliases

HGNC Name

phenylalanyl-tRNA synthetase subunit alpha

HGNC Previous Symbols

FARSL; FARSLA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_004461.3

p.N410K

c.1230C>G

Surrounding Variants

4 papers

NM_004461.3

p.N410K

c.1230C>A

1 paper

NM_004461.3

p.Y412C

c.1235A>G

1 paper

NM_004461.3

p.R404H

c.1211G>A

4 papers

NM_004461.3

p.R404C

c.1210C>T

4 papers

NM_004461.3

p.E418D

c.1254G>T

4 papers

NM_004461.3

p.E418D

c.1254G>C

1 paper

NM_004461.3

p.V419L

c.1255G>T

1 paper

NM_004461.3

p.V419L

c.1255G>C

1 paper

NM_004461.3

p.I400V

c.1198A>G

1 paper

NM_004461.3

p.Y422*

c.1266C>G

1 paper

NM_004461.3

p.Y422*

c.1266C>A

1 paper

NM_004461.3

p.L398L

c.1192C>T