Varaico: Literature-Extracted Genetic Variants

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

HEAT_2aa 378–479UCSCHEAT repeats

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.N172H

c.514A>C

Surrounding Variants

1 paper

NM_002716.5

p.G161D

c.482G>A

1 paper

NM_002716.5

p.T157K

c.470C>A

1 paper

NM_002716.5

p.W152R

c.454T>C

1 paper

NM_002716.5

p.W152R

c.454T>A

1 paper

NM_002716.5

p.Q180Splc

c.539+44T>C

1 paper

NM_002716.5

p.L143L

c.427C>T

2 papers

NM_002716.5

p.V115fs

c.343_344fs

3 papers

NM_002716.5

p.T114_V115delFs

c.342_343delCA

1 paper

NM_002716.5

p.V115fs

c.343_344fs

2 papers

NM_002716.5

p.R183H

c.548G>A

1 paper

NM_002716.5

p.D188fs

c.562_563fs

1 paper

NM_002716.5

p.R194*

c.580C>T