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

97 papers

NM_014225.6

p.R183W

c.547C>T

Surrounding Variants

9 papers

NM_014225.6

p.R183G

c.547C>G

1 paper

NM_014225.6

p.R183delins

c.547_548delinsGT

44 papers

NM_014225.6

p.R183Q

c.548G>A

2 papers

NM_014225.6

p.R183P

c.548G>C

1 paper

NM_014225.6

p.R183L

c.548G>T

1 paper

NM_014225.6

p.R183R

c.549G>A

1 paper

NM_014225.6

p.R183R

c.549G>T

43 papers

NM_014225.6

p.R182W

c.544C>T

NM_001363656.2

p.R3W

c.7C>T

1 paper

NM_014225.6

p.A184A

c.552C>T

1 paper

NM_014225.6

p.A185T

c.553G>A

6 papers

NM_014225.6

p.M180K

c.539T>A

13 papers

NM_014225.6

p.M180T

c.539T>C