Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.V317fs

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.V317fs
c.949_950fs
Surrounding Variants
1 paper
NM_001370658.1
p.V317delFs
c.950delT
1 paper
NM_001370658.1
p.Q316K
c.946C>A
3 papers
NM_001370658.1
p.Q316*
c.946C>T
1 paper
NM_001370658.1
p.A315V
c.944C>T
1 paper
NM_001370658.1
p.A315T
c.943G>A
1 paper
NM_001370658.1
p.A315delFs
c.943delG
1 paper
NM_001370658.1
p.I314N
c.941T>A
1 paper
NM_001370658.1
p.I314fs
c.940_941fs
2 papers
NM_001370658.1
p.I314delFs
c.941_942delTT
1 paper
NM_001370658.1
p.N320Fs
c.960delinsGGFs
1 paper
NM_001370658.1
p.I313delFs
c.939delA
1 paper
NM_001370658.1
p.P321L
c.962C>T
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