Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.L402P

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
2 papers
NM_001370658.1
p.L402P
c.1205T>C
Surrounding Variants
1 paper
NM_001370658.1
p.L402fs
c.1204_1205fs
1 paper
NM_001370658.1
p.C403delFs
c.1207delT
1 paper
NM_001370658.1
p.G401G
c.1203C>T
1 paper
NM_001370658.1
p.C403R
c.1207T>C
4 papers
NM_001370658.1
p.C403G
c.1207T>G
1 paper
NM_001370658.1
p.C403fs
c.1207_1208fs
2 papers
NM_001370658.1
p.L402insFs
c.1204_1205insC
1 paper
NM_001370658.1
p.G401S
c.1201G>A
1 paper
NM_001370658.1
p.C404S
c.1210T>A
1 paper
NM_001370658.1
p.N400N
c.1200T>C
1 paper
NM_001370658.1
p.N400S
c.1199A>G
1 paper
NM_001370658.1
p.C404Y
c.1211G>A
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