Varaico: Literature-Extracted Genetic Variants

Gene:CHIT1
Variant:p.A442G

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
12 papers
NM_003465.3
p.A442G
c.1325C>G
Surrounding Variants
12 papers
NM_003465.3
p.A442V
c.1325C>T
1 paper
NM_003465.3
p.A442_G443insFs
c.1326_1327insT
1 paper
NM_003465.3
p.A442P
c.1324G>C
1 paper
NM_003465.3
p.C440W
c.1320T>G
1 paper
NM_003465.3
p.C440S
c.1319G>C
1 paper
NM_003465.3
p.C440S
c.1318T>A
1 paper
NM_003465.3
p.S436R
c.1308C>G
1 paper
NM_003465.3
p.S435P
c.1303T>C
1 paper
NM_003465.3
p.C450S
c.1348T>A
1 paper
NM_003465.3
p.C450S
c.1349G>C
2 papers
NM_003465.3
p.R434W
c.1300C>T
1 paper
NM_003465.3
p.P451S
c.1351C>T
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