Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.M141I

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.M141I
c.423G>A
Surrounding Variants
1 paper
NM_001370658.1
p.M141I
c.423G>C
1 paper
NM_001370658.1
p.M141I
c.423G>T
1 paper
NM_001370658.1
p.A142P
c.424G>C
2 papers
NM_001370658.1
p.A142V
c.425C>T
1 paper
NM_001370658.1
p.I143F
c.427A>T
4 papers
NM_001370658.1
p.C140Y
c.419G>A
1 paper
NM_001370658.1
p.C140S
c.419G>C
1 paper
NM_001370658.1
p.C140F
c.419G>T
1 paper
NM_001370658.1
p.C140S
c.418T>A
1 paper
NM_001370658.1
p.I143M
c.429C>G
1 paper
NM_001370658.1
p.I143I
c.429C>T
1 paper
NM_001370658.1
p.R144delFs
c.430delA
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."