Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.L342*

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.L342*
c.1025T>G
Surrounding Variants
1 paper
NM_001370658.1
p.L342*
c.1025T>A
1 paper
NM_001370658.1
p.I344insFs
c.1030dupA
1 paper
NM_001370658.1
p.L342L
c.1026A>G
1 paper
NM_001370658.1
p.F341V
c.1021T>G
1 paper
NM_001370658.1
p.I344fs
c.1030_1031fs
1 paper
NM_001370658.1
p.L345L
c.1035G>A
1 paper
NM_001370658.1
p.S346insFs
c.1036_1037dupTC
1 paper
NM_001370658.1
p.H338H
c.1014T>C
1 paper
NM_001370658.1
p.H338R
c.1013A>G
1 paper
NM_001370658.1
p.S346S
c.1038A>C
1 paper
NM_001370658.1
p.G347fs
c.1039_1040fs
1 paper
NM_001370658.1
p.G347G
c.1041C>A
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