Varaico: Literature-Extracted Genetic Variants

Gene:PPP2R1B
Variant:p.R549C

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
3 papers
NM_002716.5
p.R549C
c.1645C>T
Surrounding Variants
3 papers
NM_002716.5
p.V545A
c.1634T>C
1 paper
NM_002716.5
p.V545L
c.1633G>T
1 paper
NM_002716.5
p.V545L
c.1633G>C
3 papers
NM_002716.5
p.I559F
c.1675A>T
1 paper
NM_002716.5
p.L538S
c.1613T>C
1 paper
NM_002716.5
p.P535A
c.1603C>G
1 paper
NM_002716.5
p.N566Splc
c.1697+2T>G
1 paper
NM_002716.5
p.N518_A519Splc
c.1555-2A>G
1 paper
NM_002716.5
p.N518_A519Splc
c.1555-38A>T
1 paper
NM_002716.5
p.K578T
c.1733A>C
1 paper
NM_002716.5
p.N518_A519Splc
c.1554+1G>A
1 paper
NM_002716.5
p.T513P
c.1537A>C
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