Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.Y474fs

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.Y474fs
c.1420_1421fs
Surrounding Variants
2 papers
NM_001370658.1
p.Y474C
c.1421A>G
1 paper
NM_001370658.1
p.S473S
c.1419C>G
1 paper
NM_001370658.1
p.Y474Y
c.1422T>C
1 paper
NM_001370658.1
p.S473delFs
c.1419delC
1 paper
NM_001370658.1
p.I475I
c.1425C>A
1 paper
NM_001370658.1
p.T472I
c.1415C>T
12 papers
NM_001370658.1
p.S471S
c.1413T>C
2 papers
NM_001370658.1
p.F476S
c.1427T>C
1 paper
NM_001370658.1
p.F476C
c.1427T>G
2 papers
NM_001370658.1
p.S471N
c.1412G>A
6 papers
NM_001370658.1
p.P477S
c.1429C>T
3 papers
NM_001370658.1
p.L478insFs
c.1433dupT
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