Varaico: Literature-Extracted Genetic Variants

Gene:FARSB
Variant:p.K262E

FARSB

87 papers

RefSeq Summary

This gene encodes a highly conserved enzyme that belongs to the aminoacyl-tRNA synthetase class IIc subfamily. This enzyme comprises the regulatory beta subunits that form a tetramer with two catalyti...

Pfam Domains

PhetRS_B1aa 1–90UCSCPhe-tRNA synthetase beta subunit B1 domain
B3_4aa 106–279UCSCB3/4 domain
B5aa 308–374UCSCtRNA synthetase B5 domain
tRNA_synthFbetaaa 377–585UCSCPhenylalanyl tRNA synthetase beta chain CLM domain

Gene Aliases

HGNC Name

phenylalanyl-tRNA synthetase subunit beta

HGNC Previous Symbol

FARSLB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005687.5
p.K262E
c.784A>G
Surrounding Variants
1 paper
NM_005687.5
p.T258A
c.772A>G
6 papers
NM_005687.5
p.T256M
c.767C>T
1 paper
NM_005687.5
p.F252S
c.755T>C
1 paper
NM_005687.5
p.I251L
c.751A>C
1 paper
NM_005687.5
p.I265R
c.794T>G
1 paper
NM_005687.5
p.E279*
c.835G>T
1 paper
NM_005687.5
p.E279D
c.837G>T
1 paper
NM_005687.5
p.E279D
c.837G>C
1 paper
NM_005687.5
p.N280S
c.839A>G
1 paper
NM_005687.5
p.T283Splc
c.848+1G>A
1 paper
NM_005687.5
p.T283Splc
c.848+47G>A
1 paper
NM_005687.5
p.P234H
c.701C>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."