Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.N152N

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.N152N
c.456T>C
Surrounding Variants
1 paper
NM_001370658.1
p.N152S
c.455A>G
1 paper
NM_001370658.1
p.L153F
c.457C>T
4 papers
NM_001370658.1
p.N152H
c.454A>C
1 paper
NM_001370658.1
p.L153R
c.458T>G
6 papers
NM_001370658.1
p.A151T
c.451G>A
1 paper
NM_001370658.1
p.A151P
c.451G>C
1 paper
NM_001370658.1
p.G154V
c.461G>T
1 paper
NM_001370658.1
p.V150E
c.449T>A
1 paper
NM_001370658.1
p.V150A
c.449T>C
1 paper
NM_001370658.1
p.K156*
c.466A>T
3 papers
NM_001370658.1
p.L149L
c.445T>C
2 papers
NM_001370658.1
p.F148L
c.444C>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."