Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.Q75Q

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.Q75Q
c.225G>A
Surrounding Variants
1 paper
NM_001370658.1
p.Q76delFs
c.228delA
1 paper
NM_001370658.1
p.V77M
c.229G>A
1 paper
NM_001370658.1
p.E74*
c.220G>T
1 paper
NM_001370658.1
p.Y73Y
c.219T>C
1 paper
NM_001370658.1
p.Y73C
c.218A>G
1 paper
NM_001370658.1
p.T79S
c.236C>G
1 paper
NM_001370658.1
p.D71V
c.212A>T
2 papers
NM_001370658.1
p.A80T
c.238G>A
1 paper
NM_001370658.1
p.A80V
c.239C>T
2 papers
NM_001370658.1
p.D71N
c.211G>A
1 paper
NM_001370658.1
p.K83delFs
c.248delA
1 paper
NM_001370658.1
p.N69fs
c.205_206fs
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."