Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.R442K

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.R442K
c.1325G>A
Surrounding Variants
1 paper
NM_001370658.1
p.R442fs
c.1324_1325fs
3 papers
NM_001370658.1
p.R442delFs
c.1324delA
1 paper
NM_001370658.1
p.C443Y
c.1328G>A
1 paper
NM_001370658.1
p.G445insFs
c.1334dupG
1 paper
NM_001370658.1
p.G445delFs
c.1334delG
2 papers
NM_001370658.1
p.G444R
c.1330G>A
78 papers
NM_001370658.1
p.G444R
c.1330G>C
1 paper
NM_001370658.1
p.G444E
c.1331G>A
1 paper
NM_001370658.1
p.L440P
c.1319T>C
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
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