Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.K83_D84Splc

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.K83_D84Splc
c.249+19A>C
Surrounding Variants
1 paper
NM_001370658.1
p.K83_D84Splc
c.249+15C>T
1 paper
NM_001370658.1
p.K83_D84Splc
c.249+5G>A
2 papers
NM_001370658.1
p.K83_D84Splc
c.249+5G>T
1 paper
NM_001370658.1
p.K83_D84Splc
c.249+2C>G
2 papers
NM_001370658.1
p.K83_D84Splc
c.249+1G>A
2 papers
NM_001370658.1
p.K83_D84Splc
c.249+1G>T
1 paper
NM_001370658.1
p.K83fs
c.247_248fs
1 paper
NM_001370658.1
p.K83delFs
c.248delA
1 paper
NM_001370658.1
p.A80V
c.239C>T
2 papers
NM_001370658.1
p.A80T
c.238G>A
1 paper
NM_001370658.1
p.T79S
c.236C>G
1 paper
NM_001370658.1
p.V77M
c.229G>A
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