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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CELA3B

CELA3B

94 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 29–263UCSCTrypsin

Gene Aliases

HGNC Name

chymotrypsin like elastase 3B

HGNC Previous Symbol

ELA3B

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 102 variants

9 papers

chr1:21981045 C>T

NM_007352.4

p.R79W

c.235C>T

Trypsin

Exome: 97.9% (AC=1430846, hom=702320)Genome: 94.6% (AC=144011, hom=68466)74 overlapping SVs

9 papers

chr1:21986610 C>G

NM_007352.4

p.A241G

c.722C>G

Trypsin

Exome: 1.6% (AC=23551, hom=236)Genome: 1.8% (AC=2733, hom=24)75 overlapping SVs

6 papers

chr1:21984314 A>G

NM_007352.4

p.I209V

c.625A>G

Trypsin

Exome: 2.6% (AC=37321, hom=614)Genome: 2.2% (AC=3392, hom=61)73 overlapping SVs

4 papers

chr1:21983732 A>T

NM_007352.4

p.Q134L

c.401A>T

Trypsin

Exome: 0.2% (AC=2976, hom=45)Genome: 1.3% (AC=1911, hom=38)73 overlapping SVs

4 papers

chr1:21984318 G>A

NM_007352.4

p.R210H

c.629G>A

Trypsin

Exome: 1.6% (AC=22718, hom=256)Genome: 2.9% (AC=4453, hom=112)73 overlapping SVs

4 papers

chr1:21986524 G>T

NM_007352.4

p.N214_G215Splc

c.643-7G>T

Exome: 15.5% (AC=226948, hom=18745)Genome: 14.8% (AC=22501, hom=1907)75 overlapping SVs

3 papers

chr1:21978398 C>T

NM_007352.4

p.P25S

c.73C>T

Exome: 0.1% (AC=1971, hom=15)Genome: 0.3% (AC=525, hom=3)74 overlapping SVs

3 papers

chr1:21981078 C>T

NM_007352.4

p.R90C

c.268C>T

Trypsin

Exome: 0.0% (AC=18, hom=0)Genome: 0.0% (AC=4, hom=0)74 overlapping SVs

3 papers

chr1:21981079 G>T

NM_007352.4

p.R90L

c.269G>T

Trypsin

Exome: 0.1% (AC=827, hom=5)Genome: 0.0% (AC=74, hom=1)74 overlapping SVs

3 papers

chr1:21981084 G>A

NM_007352.4

p.V92M

c.274G>A

Trypsin

Exome: 0.0% (AC=1, hom=0)Genome: n/a74 overlapping SVs

3 papers

chr1:21983722 C>T

NM_007352.4

p.R131C

c.391C>T

Trypsin

Exome: 0.4% (AC=6179, hom=200)Genome: 0.3% (AC=473, hom=11)73 overlapping SVs

3 papers

chr1:21983791 G>A

NM_007352.4

p.E154K

c.460G>A

Trypsin

Exome: 0.0% (AC=148, hom=0)Genome: 0.0% (AC=42, hom=0)73 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."