Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R8
Variant:p.W340*

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.W340*
c.1019G>A
Surrounding Variants
1 paper
NM_014110.5
p.W340*
c.1020G>A
1 paper
NM_014110.5
p.A339T
c.1015G>A
1 paper
NM_014110.5
p.Y335F
c.1004A>T
1 paper
NM_014110.5
p.Y335D
c.1003T>G
1 paper
NM_014110.5
p.T346P
c.1036A>C
1 paper
NM_014110.5
p.S348P
c.1042T>C
1 paper
NM_014110.5
p.E329Q
c.985G>C
1 paper
NM_014110.5
p.A326T
c.976G>A
1 paper
NM_014110.5
p.P324A
c.970C>G
1 paper
NM_014110.5
p.M313T
c.938T>C
1 paper
NM_014110.5
p.A298T
c.892G>A
1 paper
NM_014110.5
p.P291L
c.872C>T
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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."