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

4 papers

NM_014225.6

p.R221W

c.661C>T

Surrounding Variants

1 paper

NM_014225.6

p.R221Q

c.662G>A

1 paper

NM_014225.6

p.V220A

c.659T>C

13 papers

NM_014225.6

p.V220M

c.658G>A

18 papers

NM_014225.6

p.S219L

c.656C>T

3 papers

NM_014225.6

p.S219P

c.655T>C

1 paper

NM_014225.6

p.A224delFs

c.670delG

1 paper

NM_014225.6

p.D218V

c.653A>T

1 paper

NM_014225.6

p.A224fs

c.670_671fs

1 paper

NM_014225.6

p.A224E

c.671C>A

3 papers

NM_014225.6

p.A224V

c.671C>T

1 paper

NM_014225.6

p.V225M

c.673G>A

1 paper

NM_014225.6

p.C228C

c.684C>T