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.Q237R

c.710A>G

Surrounding Variants

2 papers

NM_014225.6

p.Q237L

c.710A>T

1 paper

NM_014225.6

p.A232A

c.696C>T

1 paper

NM_014225.6

p.A242S

c.724G>T

1 paper

NM_014225.6

p.I231I

c.693C>T

1 paper

NM_014225.6

p.V244M

c.730G>A

1 paper

NM_014225.6

p.N230I

c.689A>T

1 paper

NM_014225.6

p.M245V

c.733A>G

3 papers

NM_014225.6

p.V229M

c.685G>A

1 paper

NM_014225.6

p.P246delFs

c.738delC

1 paper

NM_014225.6

p.C228C

c.684C>T

1 paper

NM_014225.6

p.P246S

c.736C>T

1 paper

NM_014225.6

p.P246R

c.737C>G