Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.S310R

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.S310R
c.930T>A
Surrounding Variants
1 paper
NM_001370658.1
p.S310R
c.930T>G
1 paper
NM_001370658.1
p.H311fs
c.931_932fs
1 paper
NM_001370658.1
p.H311_I314delFs
c.932_941del10
3 papers
NM_001370658.1
p.S310N
c.929G>A
1 paper
NM_001370658.1
p.S310fs
c.928_929fs
1 paper
NM_001370658.1
p.S310R
c.928A>C
2 papers
NM_001370658.1
p.H311delFs
c.933delC
1 paper
NM_001370658.1
p.I313delFs
c.939delA
1 paper
NM_001370658.1
p.I314fs
c.940_941fs
2 papers
NM_001370658.1
p.I314delFs
c.941_942delTT
1 paper
NM_001370658.1
p.N307fs
c.919_920fs
1 paper
NM_001370658.1
p.I314N
c.941T>A
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