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

3 papers

NM_004461.3

p.R475Q

c.1424G>A

Surrounding Variants

1 paper

NM_004461.3

p.R475W

c.1423C>T

1 paper

NM_004461.3

p.R494G

c.1480C>G

1 paper

NM_004461.3

p.R500R

c.1500G>A

1 paper

NM_004461.3

p.A508V

c.1523C>T

1 paper

NM_004461.3

p.E462E

c.1386G>A

1 paper

NM_004461.3

p.A456G

c.1367C>G

1 paper

NM_004461.3

p.F438C

c.1313T>G

1 paper

NM_004461.3

p.F438_R439insG

c.1312_1316ins3

1 paper

NM_004461.3

p.V430_E431insG

c.1288_1292ins3

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.V419L

c.1255G>T