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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPP1R14A

PPP1R14A

26 papers

RefSeq Summary

The protein encoded by this gene belongs to the protein phosphatase 1 (PP1) inhibitor family. This protein is an inhibitor of smooth muscle myosin phosphatase, and has higher inhibitory activity when ...

Pfam Domains

PP1_inhibitoraa 1–135UCSCPKC-activated protein phosphatase-1 inhibitor

Gene Aliases

HGNC Name

protein phosphatase 1 regulatory inhibitor subunit 14A

HGNC Previous Symbol

PPP1INL

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 19 variants

3 papers

chr19:38256228 T>C

NM_033256.3

p.T38A

c.112A>G

PP1_inhibitor

Exome: 0.0% (AC=0, hom=0)Genome: n/a11 overlapping SVs

2 papers

chr19:38256250 C>CN

NM_033256.3

p.L30fs

c.88_89fs

PP1_inhibitor

exact variant not in gnomAD11 overlapping SVs

1 paper

chr19:38256331 A>G

NM_033256.3

p.A3A

c.9T>C

PP1_inhibitor

Exome: 0.0% (AC=0, hom=0)Genome: n/a11 overlapping SVs

1 paper

chr19:38256265 G>T

NM_033256.3

p.G25G

c.75C>A

PP1_inhibitor

Exome: 0.0% (AC=0, hom=0)Genome: n/a11 overlapping SVs

1 paper

chr19:38256258 C>G

NM_033256.3

p.G28R

c.82G>C

PP1_inhibitor

Exome: 0.0% (AC=0, hom=0)Genome: n/a11 overlapping SVs

1 paper

chr19:38256253 C>T

NM_033256.3

p.G29G

c.87G>A

PP1_inhibitor

Exome: 0.0% (AC=3, hom=0)Genome: n/a11 overlapping SVs

1 paper

chr19:38256251 AG>A

NM_033256.3

p.L30delFs

c.88delG

PP1_inhibitor

exact variant not in gnomAD11 overlapping SVs

1 paper

chr19:38256248 T>C

NM_033256.3

p.Q31R

c.92A>G

PP1_inhibitor

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=6, hom=0)11 overlapping SVs

1 paper

chr19:38256221 T>C

NM_033256.3

p.K40R

c.119A>G

PP1_inhibitor

Exome: 0.1% (AC=1420, hom=23)Genome: 0.0% (AC=76, hom=0)11 overlapping SVs

1 paper

chr19:38256219 A>G

NM_033256.3

p.Y41H

c.121T>C

PP1_inhibitor

Exome: 0.0% (AC=0, hom=0)Genome: n/a11 overlapping SVs

1 paper

chr19:38256215 T>G

NM_033256.3

p.D42A

c.125A>C

PP1_inhibitor

exact variant not in gnomAD11 overlapping SVs

1 paper

chr19:38252959 C>A

NM_033256.3

p.D73Y

c.217G>T

PP1_inhibitor

exact variant not in gnomAD11 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."