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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PGA5

PGA5

21 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 A5

HGNC Previous Name

pepsinogen 5, group I (pepsinogen A)

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 20 variants

2 papers

chr11:61251171 G>C

NM_014224.5

p.V353L

c.1057G>C

Asp

Exome: 0.2% (AC=3361, hom=47)Genome: 0.5% (AC=759, hom=7)32 overlapping SVs

1 paper

chr11:61241264 C>G

NM_014224.5

p.S13C

c.38C>G

exact variant not in gnomAD33 overlapping SVs

1 paper

chr11:61241922 C>A

NM_014224.5

p.N70K

c.210C>A

exact variant not in gnomAD33 overlapping SVs

1 paper

chr11:61244210 T>A

NM_014224.5

p.F89I

c.265T>A

Asp

exact variant not in gnomAD32 overlapping SVs

1 paper

chr11:61248426 A>C

NM_014224.5

p.K222Q

c.664A>C

Asp

Exome: 0.2% (AC=2823, hom=31)Genome: 0.4% (AC=641, hom=14)34 overlapping SVs

1 paper

chr11:61248447 T>A

NM_014224.5

p.F229I

c.685T>A

Asp

exact variant not in gnomAD34 overlapping SVs

1 paper

chr11:61248475 C>A

NM_014224.5

p.T238N

c.713C>A

Asp

Exome: 0.0% (AC=17, hom=0)Genome: 0.0% (AC=6, hom=0)34 overlapping SVs

1 paper

chr11:61249682 G>A

NM_014224.5

p.G263R

c.787G>A

Asp

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=1, hom=0)34 overlapping SVs

1 paper

chr11:61249682 G>C

NM_014224.5

p.G263R

c.787G>C

Asp

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)34 overlapping SVs

1 paper

chr11:61249688 A>G

NM_014224.5

p.T265A

c.793A>G

Asp

Exome: 0.0% (AC=314, hom=2)Genome: 0.0% (AC=62, hom=1)34 overlapping SVs

1 paper

chr11:61249710 G>T

NM_014224.5

p.C272F

c.815G>T

Asp

Exome: 0.0% (AC=64, hom=0)Genome: 0.0% (AC=3, hom=0)34 overlapping SVs

1 paper

chr11:61249712 C>T

NM_014224.5

p.Q273*

c.817C>T

Asp

Exome: 0.0% (AC=648, hom=13)Genome: 0.0% (AC=36, hom=1)34 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."