Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.W366*

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.W366*
c.1098G>A
Surrounding Variants
1 paper
NM_001370658.1
p.W366*
c.1097G>A
1 paper
NM_001370658.1
p.W366R
c.1096T>C
3 papers
NM_001370658.1
p.N367N
c.1101C>T
1 paper
NM_001370658.1
p.V368M
c.1102G>A
1 paper
NM_001370658.1
p.V368insFs
c.1103dupT
1 paper
NM_001370658.1
p.K365fs
c.1093_1094fs
1 paper
NM_001370658.1
p.V368E
c.1103T>A
1 paper
NM_001370658.1
p.T364T
c.1092C>A
1 paper
NM_001370658.1
p.T364T
c.1092C>T
1 paper
NM_001370658.1
p.V368V
c.1104G>T
1 paper
NM_001370658.1
p.N369fs
c.1105_1106fs
1 paper
NM_001370658.1
p.T364insFs
c.1092dupC
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