Varaico: Literature-Extracted Genetic Variants

Gene:CHIT1
Variant:p.G102S

CHIT1

298 papers

RefSeq Summary

Chitotriosidase is secreted by activated human macrophages and is markedly elevated in plasma of Gaucher disease patients. The expression of chitotriosidase occurs only at a late stage of differentiat...

Pfam Domains

Glyco_hydro_18aa 23–363UCSCGlycosyl hydrolases family 18
CBM_14aa 420–466UCSCChitin binding Peritrophin-A domain

Gene Aliases

HGNC Name

chitinase 1

HGNC Alias Symbol

CHI3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
56 papers
NM_003465.3
p.G102S
c.304G>A
Surrounding Variants
1 paper
NM_003465.3
p.G102R
c.304G>C
1 paper
NM_003465.3
p.W99C
c.297G>T
1 paper
NM_003465.3
p.W99C
c.297G>C
1 paper
NM_003465.3
p.W99*
c.296G>A
1 paper
NM_003465.3
p.K105Splc
c.314+1G>T
1 paper
NM_003465.3
p.G97R
c.289G>A
1 paper
NM_003465.3
p.M86Splc
c.257+5G>T
1 paper
NM_003465.3
p.M86Splc
c.257+5G>C
1 paper
NM_003465.3
p.M86Splc
c.257+2T>G
1 paper
NM_003465.3
p.K85K
c.255G>A
1 paper
NM_003465.3
p.T75P
c.223A>C
3 papers
NM_003465.3
p.E74K
c.220G>A
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