Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R8
Variant:p.L126R

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.L126R
c.377T>G
Surrounding Variants
1 paper
NM_014110.5
p.R127C
c.379C>T
1 paper
NM_014110.5
p.Y124F
c.371A>T
1 paper
NM_014110.5
p.S135*
c.404C>A
1 paper
NM_014110.5
p.A136T
c.406G>A
1 paper
NM_014110.5
p.A136D
c.407C>A
1 paper
NM_014110.5
p.V115I
c.343G>A
1 paper
NM_014110.5
p.T114M
c.341C>T
1 paper
NM_014110.5
p.T114P
c.340A>C
1 paper
NM_014110.5
p.P110L
c.329C>T
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.E102D
c.306A>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."