Varaico: Literature-Extracted Genetic Variants

Gene:CHIT1
Variant:p.K350*

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.K350*
c.1048A>T
Surrounding Variants
1 paper
NM_003465.3
p.K350insFs
c.1048_1049ins14
1 paper
NM_003465.3
p.Q349del1
c.1045_1046delCTG
1 paper
NM_003465.3
p.K350fs
c.1048_1049fs
1 paper
NM_003465.3
p.Q349_K350del1
c.1047_1049delTTC
1 paper
NM_003465.3
p.K348M
c.1043A>T
1 paper
NM_003465.3
p.L347R
c.1040T>G
1 paper
NM_003465.3
p.G354ins8
c.1060_1061ins24
13 papers
NM_003465.3
p.G354R
c.1060G>C
13 papers
NM_003465.3
p.G354R
c.1060G>A
1 paper
NM_003465.3
p.V344Fs
c.1032delinsTGFs
11 papers
NM_003465.3
p.K350_W358ins3
c.1049_1072dup24
8 papers
NM_003465.3
p.W358*
c.1073G>A
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