Varaico: Literature-Extracted Genetic Variants

Gene:CHIT1
Variant:p.E409G

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
18 papers
NM_003465.3
p.E409G
c.1226A>G
Surrounding Variants
1 paper
NM_003465.3
p.P408L
c.1223C>T
1 paper
NM_003465.3
p.S406S
c.1218T>C
1 paper
NM_003465.3
p.S413N
c.1238G>A
1 paper
NM_003465.3
p.P414P
c.1242T>C
1 paper
NM_003465.3
p.Q404fs
c.1210_1211fs
1 paper
NM_003465.3
p.C420S
c.1258T>A
1 paper
NM_003465.3
p.C420S
c.1259G>C
1 paper
NM_003465.3
p.Q421*
c.1261C>T
2 papers
NM_003465.3
p.P395L
c.1184C>T
1 paper
NM_003465.3
p.D425V
c.1274A>T
1 paper
NM_003465.3
p.G426insFs
c.1277_1278ins4
1 paper
NM_003465.3
p.L427I
c.1279C>A
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."