Varaico: Literature-Extracted Genetic Variants

Gene:CTBS
Variant:p.A23G

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.A23G
c.68C>G
Surrounding Variants
1 paper
NM_004388.3
p.A23V
c.68C>T
1 paper
NM_004388.3
p.L22_L25del0
c.66_74del9
1 paper
NM_004388.3
p.L25del1
c.73_74delCAG
1 paper
NM_004388.3
p.L22_L25del4
c.64_74del12
1 paper
NM_004388.3
p.A26E
c.77C>A
1 paper
NM_004388.3
p.L31R
c.92T>G
1 paper
NM_004388.3
p.L31fs
c.91_92fs
2 papers
NM_004388.3
p.L31delFs
c.92delA
1 paper
NM_004388.3
p.A32A
c.96G>C
2 papers
NM_004388.3
p.L11_V12delFs
c.31_34del4
3 papers
NM_004388.3
p.L31_R34del0
c.92_100del9
2 papers
NM_004388.3
p.L31_R34del4
c.91_101del12
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