Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.Q265*

BTD

313 papers

RefSeq Summary

The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free ...

Pfam Domains

CN_hydrolaseaa 55–290UCSCCarbon-nitrogen hydrolase

Gene Aliases

HGNC Name

biotinidase

HGNC Alias Names

biotinase; biocytinase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001370658.1
p.Q265*
c.793C>T
Surrounding Variants
1 paper
NM_001370658.1
p.Q265L
c.794A>T
1 paper
NM_001370658.1
p.Q265H
c.795G>C
1 paper
NM_001370658.1
p.Q265H
c.795G>T
1 paper
NM_001370658.1
p.K266delFs
c.798delA
1 paper
NM_001370658.1
p.E263E
c.789G>A
1 paper
NM_001370658.1
p.K266K
c.798A>G
1 paper
NM_001370658.1
p.A267delFs
c.799delG
1 paper
NM_001370658.1
p.E263K
c.787G>A
1 paper
NM_001370658.1
p.A267fs
c.799_800fs
1 paper
NM_001370658.1
p.I262F
c.784A>T
1 paper
NM_001370658.1
p.A269P
c.805G>C
1 paper
NM_001370658.1
p.A261delFs
c.782delC
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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."