Varaico: Literature-Extracted Genetic Variants

Gene:PPP2R1B

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
1–12 of 88 variants
13 papers
NM_002716.5
p.G90D
c.269G>A
6 papers
NM_002716.5
p.P65S
c.193C>T
4 papers
NM_002716.5
p.R270C
c.808C>T
4 papers
NM_002716.5
p.K343E
c.1027A>G
4 papers
NM_002716.5
p.K354R
c.1061A>G
4 papers
NM_002716.5
p.D504G
c.1511A>G
3 papers
NM_002716.5
p.L101P
c.302T>C
3 papers
NM_002716.5
p.T114_V115delFs
c.342_343delCA
3 papers
NM_002716.5
p.R311W
c.931C>T
3 papers
NM_002716.5
p.V545A
c.1634T>C
3 papers
NM_002716.5
p.R549C
c.1645C>T
3 papers
NM_002716.5
p.I559F
c.1675A>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."