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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHI3L1

CHI3L1

103 papers

RefSeq Summary

Chitinases catalyze the hydrolysis of chitin, which is an abundant glycopolymer found in insect exoskeletons and fungal cell walls. The glycoside hydrolase 18 family of chitinases includes eight human...

Pfam Domains

Glyco_hydro_18aa 23–357UCSCGlycosyl hydrolases family 18

Gene Aliases

HGNC Name

chitinase 3 like 1

HGNC Alias Symbols

GP39; YKL40; YK-40

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 68 variants

13 papers

chr1:203183673 T>C

NM_001276.4

p.R145G

c.433A>G

Glyco_hydro_18

Exome: 49.8% (AC=727640, hom=185116)Genome: 41.5% (AC=63088, hom=14516)153 overlapping SVs

5 papers

chr1:203185337 C>T

NM_001276.4

p.R35Q

c.104G>A

Glyco_hydro_18

Exome: 0.1% (AC=1707, hom=3)Genome: 0.1% (AC=176, hom=0)153 overlapping SVs

5 papers

chr1:203185194 G>A

NM_001276.4

p.L83F

c.247C>T

Glyco_hydro_18

Exome: 0.0% (AC=1, hom=0)Genome: n/a153 overlapping SVs

3 papers

chr1:203185348 C>T

NM_001276.4

p.W31*

c.93G>A

Glyco_hydro_18

Exome: n/aGenome: 0.0% (AC=1, hom=0)153 overlapping SVs

3 papers

chr1:203182666 G>C

NM_001276.4

p.Q196Splc

c.587+65C>G

Exome: 2.7% (AC=39565, hom=1172)Genome: 4.7% (AC=7177, hom=279)154 overlapping SVs

3 papers

chr1:203179505 A>G

NM_001276.4

p.C364C

c.1092T>C

Exome: 99.8% (AC=1423845, hom=710520)Genome: 99.9% (AC=152146, hom=75988)153 overlapping SVs

2 papers

chr1:203186575 A>T

NM_001276.4

p.G9Splc

c.25+24T>A

Exome: 15.2% (AC=221631, hom=20647)Genome: 23.5% (AC=35627, hom=5649)155 overlapping SVs

2 papers

chr1:203185404 A>G

NM_001276.4

p.C19Splc

c.56-19T>C

Exome: 65.8% (AC=960649, hom=316633)Genome: 67.1% (AC=102068, hom=34340)153 overlapping SVs

2 papers

chr1:203185349 C>T

NM_001276.4

p.W31*

c.92G>A

Glyco_hydro_18

exact variant not in gnomAD153 overlapping SVs

2 papers

chr1:203184586 C>T

NM_001276.4

p.G102R

c.304G>A

Glyco_hydro_18

Exome: n/aGenome: 0.0% (AC=1, hom=0)153 overlapping SVs

2 papers

chr1:203183759 C>T

NM_001276.4

p.R116H

c.347G>A

Glyco_hydro_18

Exome: 0.0% (AC=23, hom=0)Genome: 0.0% (AC=3, hom=0)153 overlapping SVs

2 papers

chr1:203183675 C>T

NM_001276.4

p.R144Q

c.431G>A

Glyco_hydro_18

Exome: 0.0% (AC=72, hom=0)Genome: 0.0% (AC=11, hom=0)153 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."