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

1 paper

NM_014225.6

p.T247S

c.739A>T

Surrounding Variants

1 paper

NM_014225.6

p.T247fs

c.739_740fs

1 paper

NM_014225.6

p.T247S

c.740C>G

1 paper

NM_014225.6

p.P246P

c.738C>T

1 paper

NM_014225.6

p.P246R

c.737C>G

1 paper

NM_014225.6

p.P246L

c.737C>T

1 paper

NM_014225.6

p.P246S

c.736C>T

1 paper

NM_014225.6

p.P246delFs

c.738delC

1 paper

NM_014225.6

p.L248R

c.743T>G

1 paper

NM_014225.6

p.M245V

c.733A>G

1 paper

NM_014225.6

p.R249S

c.745C>A

1 paper

NM_014225.6

p.R249C

c.745C>T

5 papers

NM_014225.6

p.R249H

c.746G>A