Varaico: Literature-Extracted Genetic Variants

Gene:CHIT1
Variant:p.C450S

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.C450S
c.1348T>A
Surrounding Variants
1 paper
NM_003465.3
p.C450S
c.1349G>C
1 paper
NM_003465.3
p.P451S
c.1351C>T
1 paper
NM_003465.3
p.P451A
c.1351C>G
1 paper
NM_003465.3
p.P451Q
c.1352C>A
1 paper
NM_003465.3
p.T452A
c.1354A>G
1 paper
NM_003465.3
p.L454V
c.1360C>G
1 paper
NM_003465.3
p.V455M
c.1363G>A
1 paper
NM_003465.3
p.V455A
c.1364T>C
1 paper
NM_003465.3
p.A442_G443insFs
c.1326_1327insT
12 papers
NM_003465.3
p.A442V
c.1325C>T
12 papers
NM_003465.3
p.A442G
c.1325C>G
1 paper
NM_003465.3
p.A442P
c.1324G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."