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

1 paper

NM_004461.3

p.P289Q

c.866C>A

Surrounding Variants

4 papers

NM_004461.3

p.R295W

c.883C>T

1 paper

NM_004461.3

p.P282L

c.845C>T

1 paper

NM_004461.3

p.R298L

c.893G>T

1 paper

NM_004461.3

p.G303G

c.909C>T

1 paper

NM_004461.3

p.G304R

c.910G>C

1 paper

NM_004461.3

p.H327Y

c.979C>T

1 paper

NM_004461.3

p.T328A

c.982A>G

1 paper

NM_004461.3

p.Q341*

c.1021C>T

4 papers

NM_004461.3

p.P347L

c.1040C>T

2 papers

NM_004461.3

p.V356I

c.1066G>A

1 paper

NM_004461.3

p.L362_D363ins4

c.1084_1088ins12

1 paper

NM_004461.3

p.F370S

c.1109T>C