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

Selected Variant

76 papers

NM_014225.6

p.P179R

c.536C>G

Surrounding Variants

9 papers

NM_014225.6

p.P179H

c.536C>A

25 papers

NM_014225.6

p.P179L

c.536C>T

3 papers

NM_014225.6

p.P179T

c.535C>A

2 papers

NM_014225.6

p.P179A

c.535C>G

1 paper

NM_014225.6

p.P179S

c.535C>T

9 papers

NM_014225.6

p.M180V

c.538A>G

1 paper

NM_014225.6

p.M180_V181del1

c.540_542delGGT

10 papers

NM_014225.6

p.T178N

c.533C>A

9 papers

NM_014225.6

p.T178S

c.533C>G

6 papers

NM_014225.6

p.M180K

c.539T>A

13 papers

NM_014225.6

p.M180T

c.539T>C

8 papers

NM_014225.6

p.M180R

c.539T>G