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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHI3L2

CHI3L2

30 papers

RefSeq Summary

The protein encoded by this gene is similar to bacterial chitinases but lacks chitinase activity. The encoded protein is secreted and is involved in cartilage biogenesis. Several transcript variants e...

Pfam Domains

Glyco_hydro_18aa 28–365UCSCGlycosyl hydrolases family 18

Gene Aliases

HGNC Name

chitinase 3 like 2

HGNC Alias Symbols

YKL-39; YKL39

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 39 variants

2 papers

chr1:111241360 C>T

NM_004000.3

p.R318W

c.952C>T

Glyco_hydro_18

Exome: 14.2% (AC=205734, hom=16660)Genome: 11.3% (AC=17182, hom=1314)239 overlapping SVs

1 paper

chr1:111229869 C>T

NM_004000.3

p.L20F

c.58C>T

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=5, hom=0)238 overlapping SVs

1 paper

chr1:111229878 G>A

NM_004000.3

p.G23R

c.67G>A

exact variant not in gnomAD238 overlapping SVs

1 paper

chr1:111229878 G>C

NM_004000.3

p.G23R

c.67G>C

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)238 overlapping SVs

1 paper

chr1:111229879 G>A

NM_004000.3

p.G23E

c.68G>A

Exome: 0.0% (AC=65, hom=0)Genome: 0.0% (AC=2, hom=0)238 overlapping SVs

1 paper

chr1:111229879 G>T

NM_004000.3

p.G23V

c.68G>T

Exome: 0.0% (AC=3, hom=0)Genome: n/a238 overlapping SVs

1 paper

chr1:111230789 C>T

NM_004000.3

p.R40W

c.118C>T

Glyco_hydro_18

Exome: 0.0% (AC=136, hom=0)Genome: 0.0% (AC=19, hom=0)238 overlapping SVs

1 paper

chr1:111230809 C>T

NM_004000.3

p.F46F

c.138C>T

Glyco_hydro_18

exact variant not in gnomAD238 overlapping SVs

1 paper

chr1:111230816 G>T

NM_004000.3

p.E49*

c.145G>T

Glyco_hydro_18

exact variant not in gnomAD238 overlapping SVs

1 paper

chr1:111230901 G>T

NM_004000.3

p.S77I

c.230G>T

Glyco_hydro_18

exact variant not in gnomAD238 overlapping SVs

1 paper

chr1:111230931 G>T

NM_004000.3

p.S87I

c.260G>T

Glyco_hydro_18

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=2, hom=0)238 overlapping SVs

1 paper

chr1:111230946 G>C

NM_004000.3

p.K91Splc

c.272+3G>C

Exome: 44.3% (AC=646561, hom=145606)Genome: 40.0% (AC=60861, hom=12783)238 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."