Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.A22P

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.A22P
c.64G>C
Surrounding Variants
1 paper
NM_001370658.1
p.G21insFs
c.63dupA
1 paper
NM_001370658.1
p.G21fs
c.61_62fs
1 paper
NM_001370658.1
p.H23R
c.68A>G
1 paper
NM_001370658.1
p.L20Q
c.59T>A
2 papers
NM_001370658.1
p.L20P
c.59T>C
1 paper
NM_001370658.1
p.T24delFs
c.72delC
1 paper
NM_001370658.1
p.L20fs
c.58_59fs
1 paper
NM_001370658.1
p.L20L
c.58C>T
1 paper
NM_001370658.1
p.L20delFs
c.58_59delCT
1 paper
NM_001370658.1
p.T24T
c.72C>T
1 paper
NM_001370658.1
p.E26delFs
c.76delG
1 paper
NM_001370658.1
p.G25R
c.73G>A
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