Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.W467delFs

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
2 papers
NM_001370658.1
p.W467delFs
c.1399delT
Surrounding Variants
1 paper
NM_001370658.1
p.W467R
c.1399T>A
1 paper
NM_001370658.1
p.W467R
c.1399T>C
1 paper
NM_001370658.1
p.W467fs
c.1399_1400fs
2 papers
NM_001370658.1
p.L466fs
c.1396_1397fs
1 paper
NM_001370658.1
p.L466L
c.1396C>T
1 paper
NM_001370658.1
p.W467*
c.1400G>A
2 papers
NM_001370658.1
p.H465Q
c.1395C>A
3 papers
NM_001370658.1
p.H465Q
c.1395C>G
1 paper
NM_001370658.1
p.W467*
c.1401G>A
1 paper
NM_001370658.1
p.L466_T472delFs
c.1396_1415del20
1 paper
NM_001370658.1
p.G468G
c.1404C>A
1 paper
NM_001370658.1
p.H465delFs
c.1393delC
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."