Varaico: Literature-Extracted Genetic Variants

Gene:FARSA
Variant:p.T248N

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.T248N
c.743C>A
Surrounding Variants
1 paper
NM_004461.3
p.M246T
c.737T>C
1 paper
NM_004461.3
p.E245E
c.735G>A
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
1 paper
NM_004461.3
p.F259S
c.776T>C
1 paper
NM_004461.3
p.Q267*
c.799C>T
3 papers
NM_004461.3
p.F277V
c.829T>G
2 papers
NM_004461.3
p.R231H
c.692G>A
2 papers
NM_004461.3
p.P226L
c.677C>T
1 paper
NM_004461.3
p.G216C
c.646G>T
1 paper
NM_004461.3
p.G200S
c.598G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."