Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.N329D

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
3 papers
NM_001370658.1
p.N329D
c.985A>G
Surrounding Variants
1 paper
NM_001370658.1
p.N329T
c.986A>C
1 paper
NM_001370658.1
p.E328D
c.984G>T
2 papers
NM_001370658.1
p.E328K
c.982G>A
2 papers
NM_001370658.1
p.T331fs
c.991_992fs
3 papers
NM_001370658.1
p.T331delFs
c.992delC
1 paper
NM_001370658.1
p.A327T
c.979G>A
1 paper
NM_001370658.1
p.G326G
c.978T>G
1 paper
NM_001370658.1
p.G326D
c.977G>A
1 paper
NM_001370658.1
p.G332D
c.995G>A
1 paper
NM_001370658.1
p.I325I
c.975T>C
1 paper
NM_001370658.1
p.E333K
c.997G>A
1 paper
NM_001370658.1
p.T334delFs
c.1000delA
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