Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.L20delFs

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.L20delFs
c.58_59delCT
Surrounding Variants
1 paper
NM_001370658.1
p.L20fs
c.58_59fs
1 paper
NM_001370658.1
p.L20L
c.58C>T
2 papers
NM_001370658.1
p.A19_L20insFs
c.56_59dup4
1 paper
NM_001370658.1
p.L20Q
c.59T>A
2 papers
NM_001370658.1
p.L20P
c.59T>C
1 paper
NM_001370658.1
p.G21fs
c.61_62fs
1 paper
NM_001370658.1
p.G21insFs
c.63dupA
1 paper
NM_001370658.1
p.V18fs
c.52_53fs
1 paper
NM_001370658.1
p.V17V
c.51G>T
1 paper
NM_001370658.1
p.A22P
c.64G>C
1 paper
NM_001370658.1
p.V18delFs
c.52delG
1 paper
NM_001370658.1
p.V17M
c.49G>A
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."