Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.S50fs

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.S50fs
c.148_149fs
Surrounding Variants
2 papers
NM_001370658.1
p.S50N
c.149G>A
1 paper
NM_001370658.1
p.L49fs
c.145_146fs
1 paper
NM_001370658.1
p.L51delFs
c.152delT
1 paper
NM_001370658.1
p.L51P
c.152T>C
1 paper
NM_001370658.1
p.I48_L49insFs
c.143_146dup4
1 paper
NM_001370658.1
p.I48V
c.142A>G
1 paper
NM_001370658.1
p.S47S
c.141C>T
1 paper
NM_001370658.1
p.I48delFs
c.142delA
1 paper
NM_001370658.1
p.S47C
c.140C>G
1 paper
NM_001370658.1
p.S47delFs
c.141delC
1 paper
NM_001370658.1
p.P46T
c.136C>A
1 paper
NM_001370658.1
p.P46S
c.136C>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."