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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PGA3

PGA3

17 papers

RefSeq Summary

This gene encodes a protein precursor of the digestive enzyme pepsin, a member of the peptidase A1 family of endopeptidases. The encoded precursor is secreted by gastric chief cells and undergoes auto...

Pfam Domains

A1_Propeptideaa 19–45UCSCA1 Propeptide

Aspaa 75–387UCSCEukaryotic aspartyl protease

Gene Aliases

HGNC Name

pepsinogen A3

HGNC Previous Name

pepsinogen 3, group I (pepsinogen A)

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr11:61203569 A>G

NM_001079807.4

p.K2R

c.5A>G

Exome: 0.7% (AC=9516, hom=8)Genome: 0.5% (AC=742, hom=1)31 overlapping SVs

1 paper

chr11:61203571 T>A

NM_001079807.4

p.W3R

c.7T>A

exact variant not in gnomAD31 overlapping SVs

1 paper

chr11:61203571 T>C

NM_001079807.4

p.W3R

c.7T>C

exact variant not in gnomAD31 overlapping SVs

1 paper

chr11:61204222 A>G

NM_001079807.4

p.K58E

c.172A>G

Exome: 4.3% (AC=49904, hom=13142)Genome: 26.4% (AC=19412, hom=795)31 overlapping SVs

1 paper

chr11:61204251 C>A

NM_001079807.4

p.P67P

c.201C>A

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=50, hom=0)31 overlapping SVs

1 paper

chr11:61204260 C>A

NM_001079807.4

p.N70K

c.210C>A

exact variant not in gnomAD31 overlapping SVs

1 paper

chr11:61207532 A>C

NM_001079807.4

p.T125P

c.373A>C

Asp

Exome: 0.0% (AC=4, hom=0)Genome: n/a32 overlapping SVs

1 paper

chr11:61209870 T>A

NM_001079807.4

p.F229I

c.685T>A

Asp

exact variant not in gnomAD32 overlapping SVs

1 paper

chr11:61211115 G>A

NM_001079807.4

p.A267T

c.799G>A

Asp

Exome: 0.0% (AC=50, hom=0)Genome: 0.0% (AC=9, hom=0)32 overlapping SVs

1 paper

chr11:61211379 G>A

NM_001079807.4

p.V321I

c.961G>A

Asp

Exome: 0.0% (AC=54, hom=0)Genome: 0.0% (AC=7, hom=0)32 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."