Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.N69fs

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.N69fs
c.205_206fs
Surrounding Variants
1 paper
NM_001370658.1
p.Q68Q
c.204G>A
1 paper
NM_001370658.1
p.N69insFs
c.206dupA
1 paper
NM_001370658.1
p.N69delFs
c.206delA
1 paper
NM_001370658.1
p.Q68_N69insFs
c.203_206dup4
1 paper
NM_001370658.1
p.Q68fs
c.202_203fs
1 paper
NM_001370658.1
p.Q68E
c.202C>G
1 paper
NM_001370658.1
p.Q68*
c.202C>T
1 paper
NM_001370658.1
p.Q68delFs
c.203delA
2 papers
NM_001370658.1
p.Q68_N69insFs
c.202_205dup4
1 paper
NM_001370658.1
p.N67N
c.201C>T
2 papers
NM_001370658.1
p.D71N
c.211G>A
1 paper
NM_001370658.1
p.D71V
c.212A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."