Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.S414A

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.S414A
c.1240T>G
Surrounding Variants
2 papers
NM_001370658.1
p.S414_Y418del0
c.1241_1252del12
1 paper
NM_001370658.1
p.K415*
c.1243A>T
1 paper
NM_001370658.1
p.E416delFs
c.1247_1248delAG
1 paper
NM_001370658.1
p.T412T
c.1236C>A
1 paper
NM_001370658.1
p.T412T
c.1236C>T
2 papers
NM_001370658.1
p.E416K
c.1246G>A
1 paper
NM_001370658.1
p.E416fs
c.1246_1247fs
1 paper
NM_001370658.1
p.E416E
c.1248G>A
1 paper
NM_001370658.1
p.L417V
c.1249C>G
1 paper
NM_001370658.1
p.L417L
c.1251G>C
4 papers
NM_001370658.1
p.Y418H
c.1252T>C
1 paper
NM_001370658.1
p.Y418C
c.1253A>G
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