Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.E157E

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.E157E
c.471G>A
Surrounding Variants
1 paper
NM_001370658.1
p.E157D
c.471G>T
1 paper
NM_001370658.1
p.P158S
c.472C>T
3 papers
NM_001370658.1
p.K156N
c.468G>C
3 papers
NM_001370658.1
p.K156N
c.468G>T
1 paper
NM_001370658.1
p.K156*
c.466A>T
3 papers
NM_001370658.1
p.C159Y
c.476G>A
1 paper
NM_001370658.1
p.C159*
c.477T>A
1 paper
NM_001370658.1
p.C159_H160delins
c.477_478delinsAA
2 papers
NM_001370658.1
p.S161G
c.481A>G
1 paper
NM_001370658.1
p.G154V
c.461G>T
1 paper
NM_001370658.1
p.S162G
c.484A>G
1 paper
NM_001370658.1
p.L153R
c.458T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."