Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R8
Variant:p.K193T

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.K193T
c.578A>C
Surrounding Variants
1 paper
NM_014110.5
p.Q190*
c.568C>T
1 paper
NM_014110.5
p.S199A
c.595T>G
9 papers
NM_014110.5
p.V201A
c.602T>C
1 paper
NM_014110.5
p.T202K
c.605C>A
1 paper
NM_014110.5
p.E183E
c.549G>A
1 paper
NM_014110.5
p.E183K
c.547G>A
1 paper
NM_014110.5
p.L180F
c.538C>T
1 paper
NM_014110.5
p.E208K
c.622G>A
1 paper
NM_014110.5
p.F169S
c.506T>C
1 paper
NM_014110.5
p.D148E
c.444T>A
1 paper
NM_014110.5
p.D148E
c.444T>G
1 paper
NM_014110.5
p.A136D
c.407C>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."