Varaico: Literature-Extracted Genetic Variants

Gene:CHIT1
Variant:p.C370R

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
1 paper
NM_003465.3
p.C370R
c.1108T>C
Surrounding Variants
1 paper
NM_003465.3
p.Y375*
c.1125C>G
1 paper
NM_003465.3
p.Y375*
c.1125C>A
1 paper
NM_003465.3
p.P376L
c.1127C>T
1 paper
NM_003465.3
p.I378T
c.1133T>C
1 paper
NM_003465.3
p.D361G
c.1082A>G
3 papers
NM_003465.3
p.A359G
c.1076C>G
1 paper
NM_003465.3
p.G351_A359ins3
c.1052_1075dup24
8 papers
NM_003465.3
p.W358*
c.1074G>A
11 papers
NM_003465.3
p.K350_W358ins3
c.1049_1072dup24
8 papers
NM_003465.3
p.W358*
c.1073G>A
1 paper
NM_003465.3
p.L385P
c.1154T>C
1 paper
NM_003465.3
p.L385fs
c.1153_1154fs
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