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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPP1R15A

PPP1R15A

106 papers

RefSeq Summary

This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The induction of this gene by ioniz...

Pfam Domains

PP1c_bdgaa 542–619UCSCPhosphatase-1 catalytic subunit binding region

Gene Aliases

HGNC Name

protein phosphatase 1 regulatory subunit 15A

HGNC Alias Symbol

GADD34

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 118 variants

4 papers

chr19:48873985 G>C

NM_014330.5

p.R251P

c.752G>C

Exome: 15.9% (AC=232924, hom=25017)Genome: 29.8% (AC=45291, hom=10793)14 overlapping SVs

4 papers

chr19:48874062 A>G

NM_014330.5

p.K277E

c.829A>G

Exome: 35.1% (AC=513561, hom=95746)Genome: 45.4% (AC=69013, hom=18428)14 overlapping SVs

4 papers

chr19:48874179 G>C

NM_014330.5

p.A316P

c.946G>C

Exome: 34.1% (AC=497858, hom=89887)Genome: 44.1% (AC=67103, hom=17431)14 overlapping SVs

3 papers

chr19:48873327 G>A

NM_014330.5

p.A32T

c.94G>A

Exome: 6.5% (AC=95442, hom=3560)Genome: 4.8% (AC=7262, hom=267)15 overlapping SVs

3 papers

chr19:48873711 G>T

NM_014330.5

p.E160*

c.478G>T

Exome: 0.0% (AC=541, hom=6)Genome: 0.0% (AC=73, hom=1)14 overlapping SVs

3 papers

chr19:48874167 G>A

NM_014330.5

p.G312S

c.934G>A

Exome: 17.6% (AC=257423, hom=23931)Genome: 19.0% (AC=28930, hom=3034)14 overlapping SVs

2 papers

chr19:48874661 G>C

NM_014330.5

p.R476S

c.1428G>C

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=1, hom=0)14 overlapping SVs

2 papers

chr19:48874661 G>T

NM_014330.5

p.R476S

c.1428G>T

Exome: 15.8% (AC=230791, hom=19605)Genome: 14.3% (AC=21742, hom=1741)14 overlapping SVs

2 papers

chr19:48875728 C>T

NM_014330.5

p.R594C

c.1780C>T

PP1c_bdg

Exome: 0.1% (AC=1223, hom=30)Genome: 0.0% (AC=50, hom=0)14 overlapping SVs

2 papers

chr19:48875737 A>G

NM_014330.5

p.T597A

c.1789A>G

PP1c_bdg

Exome: 28.8% (AC=420657, hom=62846)Genome: 35.5% (AC=53847, hom=10630)14 overlapping SVs

2 papers

chr19:48875912 C>T

NM_014330.5

p.T655I

c.1964C>T

Exome: 0.0% (AC=52, hom=1)Genome: n/a14 overlapping SVs

2 papers

chr19:48875920 C>T

NM_014330.5

p.R658C

c.1972C>T

Exome: 0.0% (AC=688, hom=0)Genome: 0.0% (AC=49, hom=0)14 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."