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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPP1R14A

Variant:p.D73A

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

Selected Variant

1 paper

chr19:38252958 T>G

NM_033256.3

p.D73A

c.218A>C

PP1_inhibitor

Exome: 0.0% (AC=1, hom=0)Genome: n/a11 overlapping SVs

Surrounding Variants

1 paper

chr19:38252957 A>C

NM_033256.3

p.D73E

c.219T>G

PP1_inhibitor

Exome: 0.0% (AC=276, hom=0)Genome: 0.0% (AC=1, hom=0)11 overlapping SVs

1 paper

chr19:38252957 A>T

NM_033256.3

p.D73E

c.219T>A

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

1 paper

chr19:38252955 T>G

NM_033256.3

p.E74A

c.221A>C

PP1_inhibitor

exact variant not in gnomAD11 overlapping SVs

1 paper

chr19:38252308 C>T

NM_033256.3

p.E105K

c.313G>A

PP1_inhibitor

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=1, hom=0)11 overlapping SVs

1 paper

chr19:38251341 G>A

NM_033256.3

p.R141W

c.421C>T

Exome: 0.0% (AC=110, hom=0)Genome: 0.0% (AC=20, hom=0)12 overlapping SVs

1 paper

chr19:38251340 C>T

NM_033256.3

p.R141Q

c.422G>A

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=1, hom=0)12 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

chr19:38256219 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

chr19:38256221 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

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

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

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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."