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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHIT1

Variant:p.H64R

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr1:203225735 T>C

NM_003465.3

p.H64R

c.191A>G

Glyco_hydro_18

Exome: 0.0% (AC=3, hom=0)Genome: n/a154 overlapping SVs

Surrounding Variants

1 paper

chr1:203225737 G>C

NM_003465.3

p.N63K

c.189C>G

Glyco_hydro_18

exact variant not in gnomAD154 overlapping SVs

1 paper

chr1:203225737 G>T

NM_003465.3

p.N63K

c.189C>A

Glyco_hydro_18

Exome: 0.0% (AC=502, hom=7)Genome: 0.0% (AC=38, hom=0)154 overlapping SVs

1 paper

chr1:203225743 C>A

NM_003465.3

p.M61I

c.183G>T

Glyco_hydro_18

exact variant not in gnomAD154 overlapping SVs

1 paper

chr1:203225743 C>G

NM_003465.3

p.M61I

c.183G>C

Glyco_hydro_18

exact variant not in gnomAD154 overlapping SVs

1 paper

chr1:203225743 C>T

NM_003465.3

p.M61I

c.183G>A

Glyco_hydro_18

Exome: 0.0% (AC=29, hom=0)Genome: 0.0% (AC=2, hom=0)154 overlapping SVs

1 paper

chr1:203225720 G>A

NM_003465.3

p.T69I

c.206C>T

Glyco_hydro_18

Exome: 0.0% (AC=153, hom=3)Genome: 0.1% (AC=134, hom=1)154 overlapping SVs

1 paper

chr1:203225751 C>T

NM_003465.3

p.A59T

c.175G>A

Glyco_hydro_18

Exome: 0.0% (AC=56, hom=0)Genome: 0.0% (AC=12, hom=0)154 overlapping SVs

1 paper

chr1:203225714 C>T

NM_003465.3

p.W71*

c.212G>A

Glyco_hydro_18

Exome: 0.0% (AC=2, hom=0)Genome: n/a154 overlapping SVs

1 paper

chr1:203225713 C>T

NM_003465.3

p.W71*

c.213G>A

Glyco_hydro_18

exact variant not in gnomAD154 overlapping SVs

1 paper

chr1:203225757 C>T

NM_003465.3

p.A57T

c.169G>A

Glyco_hydro_18

Exome: 0.0% (AC=184, hom=1)Genome: 0.0% (AC=7, hom=0)154 overlapping SVs

1 paper

chr1:203225761 G>C

NM_003465.3

p.I55M

c.165C>G

Glyco_hydro_18

exact variant not in gnomAD154 overlapping SVs

3 papers

chr1:203225706 C>T

NM_003465.3

p.E74K

c.220G>A

Glyco_hydro_18

Exome: 0.5% (AC=6582, hom=24)Genome: 0.3% (AC=523, hom=2)154 overlapping SVs

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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."