Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.L440P

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.L440P
c.1319T>C
Surrounding Variants
2 papers
NM_001370658.1
p.L440delFs
c.1320delG
1 paper
NM_001370658.1
p.L440M
c.1318C>A
1 paper
NM_001370658.1
p.L440L
c.1318C>T
5 papers
NM_001370658.1
p.A439D
c.1316C>A
3 papers
NM_001370658.1
p.R442delFs
c.1324delA
1 paper
NM_001370658.1
p.R442fs
c.1324_1325fs
5 papers
NM_001370658.1
p.C438*
c.1314T>A
1 paper
NM_001370658.1
p.C438C
c.1314T>C
1 paper
NM_001370658.1
p.R442K
c.1325G>A
1 paper
NM_001370658.1
p.C438fs
c.1312_1313fs
1 paper
NM_001370658.1
p.V437V
c.1311G>A
1 paper
NM_001370658.1
p.C438insFs
c.1312dupT
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