Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.T334delFs

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.T334delFs
c.1001_1002delCG
Surrounding Variants
1 paper
NM_001370658.1
p.T334fs
c.1000_1001fs
1 paper
NM_001370658.1
p.T334M
c.1001C>T
1 paper
NM_001370658.1
p.T334T
c.1002G>A
1 paper
NM_001370658.1
p.E333K
c.997G>A
1 paper
NM_001370658.1
p.T334delFs
c.1000delA
1 paper
NM_001370658.1
p.G332D
c.995G>A
1 paper
NM_001370658.1
p.P336S
c.1006C>T
1 paper
NM_001370658.1
p.P336P
c.1008A>T
2 papers
NM_001370658.1
p.T331fs
c.991_992fs
3 papers
NM_001370658.1
p.T331delFs
c.992delC
1 paper
NM_001370658.1
p.H338R
c.1013A>G
1 paper
NM_001370658.1
p.N329T
c.986A>C
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