Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.V397V

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.V397V
c.1191C>T
Surrounding Variants
2 papers
NM_001370658.1
p.C398S
c.1192T>A
1 paper
NM_001370658.1
p.C398R
c.1192T>C
1 paper
NM_001370658.1
p.V397delins
c.1190_1191delinsAG
1 paper
NM_001370658.1
p.V397I
c.1189G>A
2 papers
NM_001370658.1
p.C398S
c.1193G>C
1 paper
NM_001370658.1
p.H396H
c.1188C>T
1 paper
NM_001370658.1
p.S399S
c.1197C>T
1 paper
NM_001370658.1
p.H396delFs
c.1187_1188delAC
1 paper
NM_001370658.1
p.N400S
c.1199A>G
1 paper
NM_001370658.1
p.Y394Y
c.1182T>C
1 paper
NM_001370658.1
p.N400N
c.1200T>C
1 paper
NM_001370658.1
p.Y394S
c.1181A>C
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