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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CELA3A

CELA3A

55 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 3A

HGNC Previous Symbol

ELA3A

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 62 variants

9 papers

chr1:22009784 C>G

NM_005747.5

p.A241G

c.722C>G

Trypsin

Exome: 96.3% (AC=1407358, hom=680841)Genome: 94.9% (AC=143191, hom=68308)74 overlapping SVs

5 papers

chr1:22006975 A>G

NM_005747.5

p.K154E

c.460A>G

Trypsin

Exome: 0.0% (AC=357, hom=7)Genome: 0.1% (AC=76, hom=2)74 overlapping SVs

2 papers

chr1:22003050 C>A

NM_005747.5

p.H31N

c.91C>A

Trypsin

Exome: 0.7% (AC=9417, hom=1622)Genome: 8.2% (AC=10011, hom=1446)75 overlapping SVs

2 papers

chr1:22003063 C>T

NM_005747.5

p.A35V

c.104C>T

Trypsin

Exome: 0.0% (AC=20, hom=2)Genome: 0.0% (AC=2, hom=0)75 overlapping SVs

2 papers

chr1:22005515 T>C

NM_005747.5

p.D66D

c.198T>C

Trypsin

Exome: 48.5% (AC=534883, hom=46)Genome: 28.2% (AC=18151, hom=1)75 overlapping SVs

2 papers

chr1:22007495 T>G

NM_005747.5

p.Y208D

c.622T>G

Trypsin

Exome: 0.1% (AC=1536, hom=43)Genome: 0.2% (AC=264, hom=11)74 overlapping SVs

2 papers

chr1:22009756 G>C

NM_005747.5

p.V232L

c.694G>C

Trypsin

exact variant not in gnomAD74 overlapping SVs

1 paper

chr1:22001704 C>T

NM_005747.5

p.L10L

c.30C>T

exact variant not in gnomAD75 overlapping SVs

1 paper

chr1:22003030 A>T

NM_005747.5

p.H24L

c.71A>T

Exome: 0.0% (AC=0, hom=0)Genome: 0.0% (AC=0, hom=0)75 overlapping SVs

1 paper

chr1:22003044 G>A

NM_005747.5

p.V29I

c.85G>A

Trypsin

Exome: 0.0% (AC=253, hom=23)Genome: 0.0% (AC=14, hom=1)75 overlapping SVs

1 paper

chr1:22003054 G>A

NM_005747.5

p.G32D

c.95G>A

Trypsin

Exome: 0.0% (AC=2, hom=0)Genome: n/a75 overlapping SVs

1 paper

chr1:22003088 G>C

NM_005747.5

p.Q43H

c.129G>C

Trypsin

exact variant not in gnomAD75 overlapping SVs

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