Varaico: Literature-Extracted Genetic Variants

Gene:PPP2R1B
Variant:p.P219L

PPP2R1B

94 papers

RefSeq Summary

This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell grow...

Pfam Domains

2AA_helicalaa 96–285UCSCPhosphatase 2A Regulatory Subunit A, helical domain
PPP2R1A-like_HEATaa 288–369UCSCPPP2R1A-like HEAT repeat
PPP2R1A-like_HEATaa 288–369UCSCPPP2R1A-like HEAT repeat
HEAT_2aa 378–479UCSCHEAT repeats
HEATaa 494–524UCSCHEAT repeat
HEATaa 494–524UCSCHEAT repeat

Gene Aliases

HGNC Name

protein phosphatase 2 scaffold subunit Abeta

HGNC Alias Symbols

PR65B; PP2A-Abeta

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002716.5
p.P219L
c.656C>T
Surrounding Variants
1 paper
NM_002716.5
p.D211_S212delFs
c.632_635del4
1 paper
NM_002716.5
p.D211V
c.632A>T
1 paper
NM_002716.5
p.D227G
c.680A>G
1 paper
NM_002716.5
p.D211fs
c.631_632fs
1 paper
NM_002716.5
p.L201F
c.603G>T
1 paper
NM_002716.5
p.L201F
c.603G>C
1 paper
NM_002716.5
p.R194Q
c.581G>A
1 paper
NM_002716.5
p.R194*
c.580C>T
1 paper
NM_002716.5
p.D188fs
c.562_563fs
2 papers
NM_002716.5
p.R183H
c.548G>A
1 paper
NM_002716.5
p.Q180Splc
c.539+44T>C
1 paper
NM_002716.5
p.N172H
c.514A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."