Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.H282H

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.H282H
c.846C>T
Surrounding Variants
1 paper
NM_001370658.1
p.H282Q
c.846C>A
1 paper
NM_001370658.1
p.H282Q
c.846C>G
1 paper
NM_001370658.1
p.H283Y
c.847C>T
1 paper
NM_001370658.1
p.H282Y
c.844C>T
1 paper
NM_001370658.1
p.V281V
c.843C>A
1 paper
NM_001370658.1
p.P284_V285delFs
c.852_855del4
1 paper
NM_001370658.1
p.V281L
c.841G>C
1 paper
NM_001370658.1
p.P284P
c.852A>G
4 papers
NM_001370658.1
p.N280H
c.838A>C
1 paper
NM_001370658.1
p.V285V
c.855T>G
1 paper
NM_001370658.1
p.N280insFs
c.838dupA
1 paper
NM_001370658.1
p.A279V
c.836C>T
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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."