Varaico: Literature-Extracted Genetic Variants

Gene:CTBS
Variant:p.S72P

CTBS

65 papers

RefSeq Summary

Chitobiase is a lysosomal glycosidase involved in degradation of asparagine-linked oligosaccharides on glycoproteins (Aronson and Kuranda, 1989 [PubMed 2531691]).[supplied by OMIM, Nov 2010].

Pfam Domains

Glyco_hydro_18aa 60–358UCSCGlycosyl hydrolases family 18

Gene Aliases

HGNC Name

chitobiase

HGNC Previous Symbol

CTB

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004388.3
p.S72P
c.214T>C
Surrounding Variants
1 paper
NM_004388.3
p.K68E
c.202A>G
1 paper
NM_004388.3
p.D64E
c.192T>A
1 paper
NM_004388.3
p.A95S
c.283G>T
1 paper
NM_004388.3
p.A95G
c.284C>G
1 paper
NM_004388.3
p.A95D
c.284C>A
1 paper
NM_004388.3
p.M92_A100del9
c.274_299del27
1 paper
NM_004388.3
p.D112Y
c.334G>T
1 paper
NM_004388.3
p.A120T
c.358G>A
1 paper
NM_004388.3
p.A130P
c.388G>C
1 paper
NM_004388.3
p.M135T
c.404T>C
1 paper
NM_004388.3
p.E59_V60Splc
c.177+315G>A
2 papers
NM_004388.3
p.L31_R34del4
c.91_101del12
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