Varaico: Literature-Extracted Genetic Variants

Gene:CHIT1
Variant:p.N30S

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
2 papers
NM_003465.3
p.N30S
c.89A>G
Surrounding Variants
1 paper
NM_003465.3
p.W31L
c.92G>T
1 paper
NM_003465.3
p.F28delFs
c.84delG
1 paper
NM_003465.3
p.Q33K
c.97C>A
1 paper
NM_003465.3
p.C26S
c.77G>C
1 paper
NM_003465.3
p.C26S
c.76T>A
1 paper
NM_003465.3
p.Q36Q
c.108G>A
1 paper
NM_003465.3
p.G37E
c.110G>A
1 paper
NM_003465.3
p.K23insFs
c.68_69ins19
1 paper
NM_003465.3
p.K23Q
c.67A>C
1 paper
NM_003465.3
p.A39T
c.115G>A
3 papers
NM_003465.3
p.R40H
c.119G>A
2 papers
NM_003465.3
p.G19Splc
c.56-6G>A
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