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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CELA2B

CELA2B

50 papers

RefSeq Summary

Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B,...

Pfam Domains

Trypsinaa 29–262UCSCTrypsin

Gene Aliases

HGNC Name

chymotrypsin like elastase 2B

HGNC Alias Symbols

RP11-265F14.2; ELA2B

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 41 variants

9 papers

chr1:15482377 G>A

NM_015849.3

p.D114N

c.340G>A

Trypsin

Exome: 25.9% (AC=378902, hom=51863)Genome: 26.3% (AC=39955, hom=5616)61 overlapping SVs

9 papers

chr1:15485937 A>G

NM_015849.3

p.Q177R

c.530A>G

Trypsin

Exome: 99.9% (AC=1460964, hom=730031)Genome: 99.5% (AC=151483, hom=75337)60 overlapping SVs

8 papers

chr1:15482272 G>A

NM_015849.3

p.G79R

c.235G>A

Trypsin

Exome: 26.1% (AC=382073, hom=53083)Genome: 26.8% (AC=40738, hom=5882)61 overlapping SVs

8 papers

chr1:15482272 G>C

NM_015849.3

p.G79R

c.235G>C

Trypsin

exact variant not in gnomAD61 overlapping SVs

3 papers

chr1:15487349 G>T

NM_015849.3

p.G235V

c.704G>T

Trypsin

Exome: 0.7% (AC=10523, hom=49)Genome: 0.4% (AC=673, hom=2)57 overlapping SVs

2 papers

chr1:15476131 T>A

NM_015849.3

p.I2I

c.6T>A

Exome: 0.1% (AC=1089, hom=19)Genome: 0.1% (AC=145, hom=2)62 overlapping SVs

2 papers

chr1:15476137 C>G

NM_015849.3

p.T4T

c.12C>G

Exome: 0.1% (AC=1655, hom=23)Genome: 0.1% (AC=171, hom=2)62 overlapping SVs

2 papers

chr1:15483267 C>A

NM_015849.3

p.N120K

c.360C>A

Trypsin

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=3, hom=0)61 overlapping SVs

2 papers

chr1:15483267 C>G

NM_015849.3

p.N120K

c.360C>G

Trypsin

Exome: 0.0% (AC=1, hom=0)Genome: n/a61 overlapping SVs

2 papers

chr1:15487294 G>A

NM_015849.3

p.G217S

c.649G>A

Trypsin

Exome: 0.0% (AC=67, hom=0)Genome: 0.0% (AC=8, hom=0)57 overlapping SVs

2 papers

chr1:15487348 G>A

NM_015849.3

p.G235S

c.703G>A

Trypsin

Exome: 0.2% (AC=3182, hom=49)Genome: 0.5% (AC=804, hom=30)57 overlapping SVs

2 papers

chr1:15487384 T>C

NM_015849.3

p.Y247H

c.739T>C

Trypsin

Exome: 0.0% (AC=146, hom=1)Genome: 0.0% (AC=5, hom=0)57 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."