Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.A35_Y37Fs

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.A35_Y37Fs
c.104_110delinsTCCFs
Surrounding Variants
1 paper
NM_001370658.1
p.A35T
c.103G>A
4 papers
NM_001370658.1
p.A35Fs
c.104delinsTCCFs
1 paper
NM_001370658.1
p.E36delFs
c.106_107delGA
1 paper
NM_001370658.1
p.E36K
c.106G>A
1 paper
NM_001370658.1
p.E36fs
c.106_107fs
20 papers
NM_001370658.1
p.E34K
c.100G>A
4 papers
NM_001370658.1
p.H33H
c.99C>T
1 paper
NM_001370658.1
p.E34delFs
c.100delG
25 papers
NM_001370658.1
p.H33_A35Fs
c.98_104delinsTCCFs
2 papers
NM_001370658.1
p.Y37*
c.111T>A
2 papers
NM_001370658.1
p.Y37*
c.111T>G
1 paper
NM_001370658.1
p.Y38_E44del7
c.112_131del21
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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."