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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHIA

CHIA

91 papers

RefSeq Summary

The protein encoded by this gene degrades chitin, which is found in the cell wall of most fungi as well as in arthropods and some nematodes. The encoded protein can also stimulate interleukin 13 expre...

Pfam Domains

Glyco_hydro_18aa 23–365UCSCGlycosyl hydrolases family 18

CBM_14aa 430–476UCSCChitin binding Peritrophin-A domain

Gene Aliases

HGNC Name

chitinase acidic

HGNC Alias Symbols

AMCase; TSA1902; CHIT2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 65 variants

11 papers

chr1:111312273 G>A

NM_201653.4

p.D47N

c.139G>A

Glyco_hydro_18

Exome: 11.8% (AC=171884, hom=10906)Genome: 13.2% (AC=20089, hom=1544)240 overlapping SVs

8 papers

chr1:111312267 A>G

NM_201653.4

p.N45D

c.133A>G

Glyco_hydro_18

Exome: 11.8% (AC=171794, hom=10869)Genome: 13.3% (AC=20291, hom=1586)240 overlapping SVs

8 papers

chr1:111312316 G>T

NM_201653.4

p.R61M

c.182G>T

Glyco_hydro_18

Exome: 11.8% (AC=171807, hom=10841)Genome: 13.2% (AC=20051, hom=1540)240 overlapping SVs

8 papers

chr1:111314586 G>A

NM_201653.4

p.G102R

c.304G>A

Glyco_hydro_18

Exome: 11.1% (AC=161516, hom=9718)Genome: 12.1% (AC=18464, hom=1193)242 overlapping SVs

8 papers

chr1:111314586 G>C

NM_201653.4

p.G102R

c.304G>C

Glyco_hydro_18

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=2, hom=0)242 overlapping SVs

8 papers

chr1:111318500 T>C

NM_201653.4

p.V246A

c.737T>C

Glyco_hydro_18

exact variant not in gnomAD240 overlapping SVs

7 papers

chr1:111319175 T>G

NM_201653.4

p.V324G

c.971T>G

Glyco_hydro_18

Exome: 0.0% (AC=2, hom=0)Genome: n/a240 overlapping SVs

7 papers

chr1:111319352 T>C

NM_201653.4

p.F354S

c.1061T>C

Glyco_hydro_18

Exome: 55.9% (AC=817720, hom=232938)Genome: 48.6% (AC=73899, hom=19047)240 overlapping SVs

5 papers

chr1:111318575 T>G

NM_201653.4

p.F271C

c.812T>G

Glyco_hydro_18

exact variant not in gnomAD240 overlapping SVs

4 papers

chr1:111314578 G>A

NM_201653.4

p.W99*

c.296G>A

Glyco_hydro_18

Exome: 0.0% (AC=18, hom=0)Genome: n/a242 overlapping SVs

4 papers

chr1:111319219 A>G

NM_201653.4

p.I339V

c.1015A>G

Glyco_hydro_18

Exome: 69.0% (AC=1009270, hom=352967)Genome: 69.2% (AC=105308, hom=37183)240 overlapping SVs

4 papers

chr1:111320330 T>G

NM_201653.4

p.V432G

c.1295T>G

CBM_14

Exome: 69.0% (AC=1009264, hom=352895)Genome: 69.1% (AC=105106, hom=37018)240 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."