Varaico: Literature-Extracted Genetic Variants

Gene:BTD

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
1–12 of 1006 variants
78 papers
NM_001370658.1
p.G444R
c.1330G>C
39 papers
NM_001370658.1
p.T456T
c.1368A>C
32 papers
NM_001370658.1
p.D424H
c.1270G>C
25 papers
NM_001370658.1
p.H33_A35Fs
c.98_104delinsTCCFs
20 papers
NM_001370658.1
p.E34K
c.100G>A
16 papers
NM_001370658.1
p.P215S
c.643C>T
16 papers
NM_001370658.1
p.E457K
c.1369G>A
13 papers
NM_001370658.1
p.Q436H
c.1308A>C
12 papers
NM_001370658.1
p.S471S
c.1413T>C
11 papers
NM_001370658.1
p.A199T
c.595G>A
11 papers
NM_001370658.1
p.Q436H
c.1308A>T
10 papers
NM_001370658.1
p.C13_C15Fs
c.38_44delinsTCCFs
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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."