Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.Y172C

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
3 papers
NM_001370658.1
p.Y172C
c.515A>G
Surrounding Variants
1 paper
NM_001370658.1
p.Y172*
c.516C>A
1 paper
NM_001370658.1
p.Y172*
c.516C>G
1 paper
NM_001370658.1
p.Y172Y
c.516C>T
1 paper
NM_001370658.1
p.F174L
c.520T>C
1 paper
NM_001370658.1
p.F174_N175insFs
c.522_523dupCA
1 paper
NM_001370658.1
p.F174L
c.522C>A
1 paper
NM_001370658.1
p.F174L
c.522C>G
1 paper
NM_001370658.1
p.F174F
c.522C>T
2 papers
NM_001370658.1
p.G170R
c.508G>A
1 paper
NM_001370658.1
p.N175D
c.523A>G
2 papers
NM_001370658.1
p.N175S
c.524A>G
1 paper
NM_001370658.1
p.D169G
c.506A>G
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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."