Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.T456T

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
39 papers
NM_001370658.1
p.T456T
c.1368A>C
Surrounding Variants
1 paper
NM_001370658.1
p.T456T
c.1368A>G
16 papers
NM_001370658.1
p.E457K
c.1369G>A
1 paper
NM_001370658.1
p.E457Q
c.1369G>C
1 paper
NM_001370658.1
p.A458T
c.1372G>A
1 paper
NM_001370658.1
p.A458P
c.1372G>C
2 papers
NM_001370658.1
p.A458insFs
c.1373_1374insT
1 paper
NM_001370658.1
p.E454E
c.1362A>G
3 papers
NM_001370658.1
p.E454A
c.1361A>C
9 papers
NM_001370658.1
p.E454G
c.1361A>G
1 paper
NM_001370658.1
p.T459M
c.1376C>T
1 paper
NM_001370658.1
p.T459T
c.1377G>A
1 paper
NM_001370658.1
p.Q453P
c.1358A>C
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