Varaico: Literature-Extracted Genetic Variants

Gene:PPP2R1B
Variant:p.D504G

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
4 papers
NM_002716.5
p.D504G
c.1511A>G
Surrounding Variants
1 paper
NM_002716.5
p.L508M
c.1522T>A
1 paper
NM_002716.5
p.V500G
c.1499T>G
1 paper
NM_002716.5
p.V498E
c.1493T>A
1 paper
NM_002716.5
p.T513P
c.1537A>C
1 paper
NM_002716.5
p.N518_A519Splc
c.1554+1G>A
1 paper
NM_002716.5
p.Q483P
c.1448A>C
1 paper
NM_002716.5
p.R471Q
c.1412G>A
1 paper
NM_002716.5
p.A469S
c.1405G>T
2 papers
NM_002716.5
p.V467Splc
c.1400-1G>A
1 paper
NM_002716.5
p.N518_A519Splc
c.1555-38A>T
1 paper
NM_002716.5
p.N518_A519Splc
c.1555-2A>G
1 paper
NM_002716.5
p.P535A
c.1603C>G
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