Varaico: Literature-Extracted Genetic Variants

Gene:CTBS
Variant:p.W216C

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.W216C
c.648G>C
Surrounding Variants
1 paper
NM_004388.3
p.W216C
c.648G>T
1 paper
NM_004388.3
p.S213delFs
c.639delA
1 paper
NM_004388.3
p.I220V
c.658A>G
1 paper
NM_004388.3
p.S183F
c.548C>T
1 paper
NM_004388.3
p.I242F
c.724A>T
1 paper
NM_004388.3
p.T270I
c.809C>T
1 paper
NM_004388.3
p.I271T
c.812T>C
4 papers
NM_004388.3
p.V274I
c.820G>A
1 paper
NM_004388.3
p.Q288H
c.864G>C
1 paper
NM_004388.3
p.S300delFs
c.899delC
1 paper
NM_004388.3
p.M135T
c.404T>C
1 paper
NM_004388.3
p.A130P
c.388G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."