Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.N194K

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
2 papers
NM_001370658.1
p.N194K
c.582C>G
Surrounding Variants
1 paper
NM_001370658.1
p.N194N
c.582C>T
5 papers
NM_001370658.1
p.N194S
c.581A>G
2 papers
NM_001370658.1
p.L195F
c.583C>T
1 paper
NM_001370658.1
p.L195P
c.584T>C
1 paper
NM_001370658.1
p.L195L
c.585C>T
1 paper
NM_001370658.1
p.Y196C
c.587A>G
1 paper
NM_001370658.1
p.H193fs
c.577_578fs
1 paper
NM_001370658.1
p.H193_N194del1
c.579_581delCAA
3 papers
NM_001370658.1
p.H193delFs
c.577delC
1 paper
NM_001370658.1
p.Y196*
c.588C>A
1 paper
NM_001370658.1
p.Y196*
c.588C>G
1 paper
NM_001370658.1
p.Y196Y
c.588C>T
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