Varaico: Literature-Extracted Genetic Variants

Gene:FARSB
Variant:p.P234H

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.P234H
c.701C>A
Surrounding Variants
1 paper
NM_005687.5
p.P234S
c.700C>T
1 paper
NM_005687.5
p.V229V
c.687C>T
1 paper
NM_005687.5
p.L219P
c.656T>C
1 paper
NM_005687.5
p.N205Y
c.613A>T
1 paper
NM_005687.5
p.I200L
c.598A>T
1 paper
NM_005687.5
p.I200L
c.598A>C
1 paper
NM_005687.5
p.M198T
c.593T>C
1 paper
NM_005687.5
p.A194T
c.580G>A
1 paper
NM_005687.5
p.Y192C
c.575A>G
1 paper
NM_005687.5
p.N187Y
c.559A>T
1 paper
NM_005687.5
p.D180A
c.539A>C
1 paper
NM_005687.5
p.D180N
c.538G>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."