Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.D169G

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.D169G
c.506A>G
Surrounding Variants
2 papers
NM_001370658.1
p.G170R
c.508G>A
1 paper
NM_001370658.1
p.K168R
c.503A>G
1 paper
NM_001370658.1
p.P167fs
c.499_500fs
3 papers
NM_001370658.1
p.P167S
c.499C>T
1 paper
NM_001370658.1
p.C166W
c.498C>G
3 papers
NM_001370658.1
p.Y172C
c.515A>G
8 papers
NM_001370658.1
p.C166Y
c.497G>A
1 paper
NM_001370658.1
p.C166S
c.497G>C
2 papers
NM_001370658.1
p.P167delFs
c.500delC
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
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."