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

4 papers

NM_002716.5

p.K343E

c.1027A>G

Surrounding Variants

1 paper

NM_002716.5

p.E331_T332delFs

c.991_994del4

1 paper

NM_002716.5

p.E331fs

c.991_992fs

3 papers

NM_002716.5

p.R311W

c.931C>T

1 paper

NM_002716.5

p.I290N

c.869T>A

4 papers

NM_002716.5

p.R270C

c.808C>T

1 paper

NM_002716.5

p.A264E

c.791C>A

2 papers

NM_002716.5

p.R261*

c.781C>T

1 paper

NM_002716.5

p.M257I

c.771G>T

1 paper

NM_002716.5

p.E253K

c.757G>A

1 paper

NM_002716.5

p.R233L

c.698G>T

1 paper

NM_002716.5

p.R233H

c.698G>A

1 paper

NM_002716.5

p.R233C

c.697C>T