Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.H33_A35Fs

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
25 papers
NM_001370658.1
p.H33_A35Fs
c.98_104delinsTCCFs
Surrounding Variants
4 papers
NM_001370658.1
p.H33H
c.99C>T
1 paper
NM_001370658.1
p.E34delFs
c.100delG
20 papers
NM_001370658.1
p.E34K
c.100G>A
1 paper
NM_001370658.1
p.H32H
c.96T>C
2 papers
NM_001370658.1
p.H33_A35delFs
c.98_104del7
1 paper
NM_001370658.1
p.H32Y
c.94C>T
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.A35_Y37Fs
c.104_110delinsTCCFs
1 paper
NM_001370658.1
p.D31fs
c.91_92fs
1 paper
NM_001370658.1
p.E36delFs
c.106_107delGA
1 paper
NM_001370658.1
p.E36K
c.106G>A
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