Varaico: Literature-Extracted Genetic Variants

PPP2R1A

520 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

HEATaa 26–56UCSCHEAT repeat

HEATaa 65–95UCSCHEAT repeat

PPP2R1A-like_HEATaa 97–178UCSCPPP2R1A-like HEAT repeat

HEATaa 166–196UCSCHEAT repeat

HEAT_2aa 187–288UCSCHEAT repeats

HEATaa 283–313UCSCHEAT repeat

Gene Aliases

HGNC Name

protein phosphatase 2 scaffold subunit Aalpha

HGNC Alias Symbols

PR65A; PP2A-Aalpha; PP2AA

Papers

RefSeq ID

Protein change

DNA change

1–12 of 440 variants

97 papers

NM_014225.6

p.R183W

c.547C>T

76 papers

NM_014225.6

p.P179R

c.536C>G

52 papers

NM_014225.6

p.S256F

c.767C>T

44 papers

NM_014225.6

p.R183Q

c.548G>A

42 papers

NM_014225.6

p.R182W

c.544C>T

32 papers

NM_014225.6

p.R258H

c.773G>A

25 papers

NM_014225.6

p.P179L

c.536C>T

24 papers

NM_014225.6

p.S256Y

c.767C>A

18 papers

NM_014225.6

p.S219L

c.656C>T

18 papers

NM_014225.6

p.W257C

c.771G>C

18 papers

NM_014225.6

p.W257C

c.771G>T

13 papers

NM_014225.6

p.M180T

c.539T>C