Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.Y16H

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.Y16H
c.46T>C
Surrounding Variants
1 paper
NM_001370658.1
p.Y16insFs
c.47dupA
1 paper
NM_001370658.1
p.Y16*
c.48C>A
1 paper
NM_001370658.1
p.Y16*
c.48C>G
1 paper
NM_001370658.1
p.Y16Y
c.48C>T
1 paper
NM_001370658.1
p.C15F
c.44G>T
1 paper
NM_001370658.1
p.V17M
c.49G>A
3 papers
NM_001370658.1
p.C15fs
c.43_44fs
6 papers
NM_001370658.1
p.C15delFs
c.44_45delGT
1 paper
NM_001370658.1
p.V18delFs
c.52delG
1 paper
NM_001370658.1
p.V17V
c.51G>T
4 papers
NM_001370658.1
p.G14S
c.40G>A
1 paper
NM_001370658.1
p.G14R
c.40G>C
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