Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R8
Variant:p.K46*

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.K46*
c.136A>T
Surrounding Variants
1 paper
NM_014110.5
p.Y49*
c.147C>A
1 paper
NM_014110.5
p.L50F
c.150A>C
1 paper
NM_014110.5
p.K40R
c.119A>G
1 paper
NM_014110.5
p.N54I
c.161A>T
1 paper
NM_014110.5
p.L57*
c.170T>A
1 paper
NM_014110.5
p.H64N
c.190C>A
1 paper
NM_014110.5
p.S66A
c.196T>G
6 papers
NM_014110.5
p.S68A
c.202T>G
1 paper
NM_014110.5
p.R69Q
c.206G>A
1 paper
NM_014110.5
p.R69R
c.207G>A
6 papers
NM_014110.5
p.V70A
c.209T>C
1 paper
NM_014110.5
p.H79N
c.235C>A
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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."