Varaico: Literature-Extracted Genetic Variants

Gene:CHIT1
Variant:p.G19Splc

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
5 papers
NM_003465.3
p.G19Splc
c.55+1G>A
Surrounding Variants
2 papers
NM_003465.3
p.G19Splc
c.55+5G>A
1 paper
NM_003465.3
p.P17S
c.49C>T
1 paper
NM_003465.3
p.V12L
c.34G>C
1 paper
NM_003465.3
p.G9Splc
c.26-2A>G
1 paper
NM_003465.3
p.G9Splc
c.25+2T>C
1 paper
NM_003465.3
p.G9Splc
c.25+1G>C
1 paper
NM_003465.3
p.V5L
c.13G>C
1 paper
NM_003465.3
p.M1I
c.3G>T
2 papers
NM_003465.3
p.M1_V2insFs
c.3_4insT
1 paper
NM_003465.3
p.M1I
c.3G>C
1 paper
NM_003465.3
p.M1I
c.3G>A
2 papers
NM_003465.3
p.G19Splc
c.56-6G>A
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