Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.G273R

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.G273R
c.817G>C
Surrounding Variants
1 paper
NM_001370658.1
p.G273S
c.817G>A
1 paper
NM_001370658.1
p.I274V
c.820A>G
2 papers
NM_001370658.1
p.F272V
c.814T>G
1 paper
NM_001370658.1
p.A271A
c.813C>A
1 paper
NM_001370658.1
p.A271_F272ins1
c.813_814insTTT
1 paper
NM_001370658.1
p.A271D
c.812C>A
1 paper
NM_001370658.1
p.A271T
c.811G>A
1 paper
NM_001370658.1
p.A271S
c.811G>T
1 paper
NM_001370658.1
p.V270V
c.810T>C
1 paper
NM_001370658.1
p.N275K
c.825C>A
1 paper
NM_001370658.1
p.N275K
c.825C>G
1 paper
NM_001370658.1
p.N275N
c.825C>T
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