Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.P349L

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
3 papers
NM_001370658.1
p.P349L
c.1046C>T
Surrounding Variants
1 paper
NM_001370658.1
p.P349P
c.1047G>A
1 paper
NM_001370658.1
p.P349P
c.1047G>T
1 paper
NM_001370658.1
p.D348A
c.1043A>C
1 paper
NM_001370658.1
p.D348N
c.1042G>A
1 paper
NM_001370658.1
p.G347G
c.1041C>A
1 paper
NM_001370658.1
p.G347G
c.1041C>T
1 paper
NM_001370658.1
p.C351R
c.1051T>C
3 papers
NM_001370658.1
p.C351delFs
c.1052delG
1 paper
NM_001370658.1
p.G347fs
c.1039_1040fs
1 paper
NM_001370658.1
p.S346S
c.1038A>C
1 paper
NM_001370658.1
p.E352_K353del1
c.1055_1057delAGA
1 paper
NM_001370658.1
p.L345L
c.1035G>A
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