Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R8
Variant:p.P291L

PPP1R8

112 papers

RefSeq Summary

This gene, through alternative splicing, encodes three different isoforms. Two of the protein isoforms encoded by this gene are specific inhibitors of type 1 serine/threonine protein phosphatases and ...

Pfam Domains

FHAaa 49–118UCSCFHA domain

Gene Aliases

HGNC Name

protein phosphatase 1 regulatory subunit 8

HGNC Alias Symbols

ard-1; NIPP-1; PRO2047; ARD1; NIPP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014110.5
p.P291L
c.872C>T
Surrounding Variants
1 paper
NM_014110.5
p.G288S
c.862G>A
1 paper
NM_014110.5
p.I287I
c.861C>T
1 paper
NM_014110.5
p.A298T
c.892G>A
1 paper
NM_014110.5
p.G275V
c.824G>T
2 papers
NM_014110.5
p.S272T
c.815G>C
1 paper
NM_014110.5
p.S272C
c.814A>T
1 paper
NM_014110.5
p.P269L
c.806C>T
1 paper
NM_014110.5
p.M313T
c.938T>C
1 paper
NM_014110.5
p.Y264D
c.790T>G
1 paper
NM_014110.5
p.P324A
c.970C>G
1 paper
NM_014110.5
p.A326T
c.976G>A
1 paper
NM_014110.5
p.E329Q
c.985G>C
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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."