Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.C166delFs

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.C166delFs
c.496_497delTG
Surrounding Variants
1 paper
NM_001370658.1
p.R165K
c.494G>A
1 paper
NM_001370658.1
p.R165insFs
c.494dupG
1 paper
NM_001370658.1
p.C166S
c.496T>A
1 paper
NM_001370658.1
p.C166R
c.496T>C
1 paper
NM_001370658.1
p.C166G
c.496T>G
8 papers
NM_001370658.1
p.C166Y
c.497G>A
1 paper
NM_001370658.1
p.C166S
c.497G>C
2 papers
NM_001370658.1
p.P167delFs
c.500delC
1 paper
NM_001370658.1
p.C166W
c.498C>G
1 paper
NM_001370658.1
p.P164S
c.490C>T
1 paper
NM_001370658.1
p.P167fs
c.499_500fs
3 papers
NM_001370658.1
p.P167S
c.499C>T
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