Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.P321P

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.P321P
c.963A>T
Surrounding Variants
1 paper
NM_001370658.1
p.P321L
c.962C>T
1 paper
NM_001370658.1
p.V322A
c.965T>C
1 paper
NM_001370658.1
p.N320Fs
c.960delinsGGFs
1 paper
NM_001370658.1
p.G323R
c.967G>C
1 paper
NM_001370658.1
p.G323V
c.968G>T
1 paper
NM_001370658.1
p.L324L
c.972C>T
1 paper
NM_001370658.1
p.I325I
c.975T>C
1 paper
NM_001370658.1
p.G326D
c.977G>A
1 paper
NM_001370658.1
p.V317fs
c.949_950fs
1 paper
NM_001370658.1
p.V317delFs
c.950delT
1 paper
NM_001370658.1
p.G326G
c.978T>G
1 paper
NM_001370658.1
p.A327T
c.979G>A
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