Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.A55S

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.A55S
c.163G>T
Surrounding Variants
1 paper
NM_001370658.1
p.A55D
c.164C>A
1 paper
NM_001370658.1
p.A55delFs
c.165delT
1 paper
NM_001370658.1
p.L54P
c.161T>C
1 paper
NM_001370658.1
p.L56fs
c.166_167fs
1 paper
NM_001370658.1
p.L56V
c.166C>G
1 paper
NM_001370658.1
p.L56delFs
c.167delT
1 paper
NM_001370658.1
p.S58_R59del2
c.172_176del6
1 paper
NM_001370658.1
p.L51P
c.152T>C
6 papers
NM_001370658.1
p.R59C
c.175C>T
1 paper
NM_001370658.1
p.L51delFs
c.152delT
1 paper
NM_001370658.1
p.R59H
c.176G>A
1 paper
NM_001370658.1
p.R59_Q60delFs
c.177_178delCC
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."