Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.Q453R

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.Q453R
c.1358A>G
Surrounding Variants
1 paper
NM_001370658.1
p.Q453P
c.1358A>C
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.E454E
c.1362A>G
2 papers
NM_001370658.1
p.C451C
c.1353T>C
4 papers
NM_001370658.1
p.C451Y
c.1352G>A
1 paper
NM_001370658.1
p.C451S
c.1352G>C
1 paper
NM_001370658.1
p.C451F
c.1352G>T
2 papers
NM_001370658.1
p.C451fs
c.1351_1352fs
1 paper
NM_001370658.1
p.C451fs
c.1351_1352fs
1 paper
NM_001370658.1
p.T450T
c.1350C>T
3 papers
NM_001370658.1
p.T450insFs
c.1350dupC
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