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.W257_R258delins

c.771_774delinsT

Surrounding Variants

3 papers

NM_014225.6

p.W257*

c.771G>A

18 papers

NM_014225.6

p.W257C

c.771G>C

18 papers

NM_014225.6

p.W257C

c.771G>T

8 papers

NM_014225.6

p.R258S

c.772C>A

9 papers

NM_014225.6

p.R258C

c.772C>T

2 papers

NM_014225.6

p.W257*

c.770G>A

8 papers

NM_014225.6

p.W257L

c.770G>T

32 papers

NM_014225.6

p.R258H

c.773G>A

12 papers

NM_014225.6

p.W257G

c.769T>G

24 papers

NM_014225.6

p.S256Y

c.767C>A

52 papers

NM_014225.6

p.S256F

c.767C>T

1 paper

NM_014225.6

p.V259I

c.775G>A