Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.P215P

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.P215P
c.645C>G
Surrounding Variants
1 paper
NM_001370658.1
p.P215P
c.645C>A
5 papers
NM_001370658.1
p.P215P
c.645C>T
2 papers
NM_001370658.1
p.F216I
c.646T>A
16 papers
NM_001370658.1
p.P215S
c.643C>T
1 paper
NM_001370658.1
p.F216C
c.647T>G
1 paper
NM_001370658.1
p.T214T
c.642C>T
5 papers
NM_001370658.1
p.T214I
c.641C>T
1 paper
NM_001370658.1
p.A217T
c.649G>A
1 paper
NM_001370658.1
p.T214A
c.640A>G
2 papers
NM_001370658.1
p.G218R
c.652G>C
1 paper
NM_001370658.1
p.G218C
c.652G>T
1 paper
NM_001370658.1
p.G218_G221Fs
c.652_661delinsTCACGAGGGCTFs
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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."