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

1–12 of 88 variants

4 papers

NM_004461.3

p.F256L

c.766T>C

4 papers

NM_004461.3

p.F256L

c.768C>G

4 papers

NM_004461.3

p.F256L

c.768C>A

4 papers

NM_004461.3

p.R295W

c.883C>T

4 papers

NM_004461.3

p.P347L

c.1040C>T

4 papers

NM_004461.3

p.R404C

c.1210C>T

4 papers

NM_004461.3

p.N410K

c.1230C>G

4 papers

NM_004461.3

p.N410K

c.1230C>A

4 papers

NM_004461.3

p.E418D

c.1254G>T

4 papers

NM_004461.3

p.E418D

c.1254G>C

3 papers

NM_004461.3

p.F277V

c.829T>G

3 papers

NM_004461.3

p.R475Q

c.1424G>A