Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R8

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
1–12 of 84 variants
9 papers
NM_014110.5
p.V201A
c.602T>C
6 papers
NM_014110.5
p.S68A
c.202T>G
6 papers
NM_014110.5
p.V70A
c.209T>C
2 papers
NM_014110.5
p.A2T
c.4G>A
2 papers
NM_014110.5
p.S272T
c.815G>C
1 paper
NM_014110.5
p.M1V
c.1A>G
1 paper
NM_014110.5
p.A2V
c.5C>T
1 paper
NM_014110.5
p.N6Y
c.16A>T
1 paper
NM_014110.5
p.S10N
c.29G>A
1 paper
NM_014110.5
p.L11V
c.31C>G
1 paper
NM_014110.5
p.L13insFs
c.38dupT
1 paper
NM_014110.5
p.L13Q
c.38T>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."