Varaico: Literature-Extracted Genetic Variants

Gene:BTD
Variant:p.S376delFs

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.S376delFs
c.1127_1128delCT
Surrounding Variants
1 paper
NM_001370658.1
p.E377_L385insFs
c.1130_1155dup26
1 paper
NM_001370658.1
p.S376S
c.1128T>G
1 paper
NM_001370658.1
p.E377*
c.1129G>T
1 paper
NM_001370658.1
p.T373del1
c.1117_1118delACA
1 paper
NM_001370658.1
p.P372S
c.1114C>T
1 paper
NM_001370658.1
p.P372_T373del1
c.1116_1118delCAC
1 paper
NM_001370658.1
p.M379L
c.1135A>C
1 paper
NM_001370658.1
p.M379L
c.1135A>T
1 paper
NM_001370658.1
p.P372del1
c.1114_1115delCCC
1 paper
NM_001370658.1
p.P371L
c.1112C>T
1 paper
NM_001370658.1
p.P371fs
c.1111_1112fs
1 paper
NM_001370658.1
p.P371S
c.1111C>T
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