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.K188M

c.563A>T

Surrounding Variants

1 paper

NM_014225.6

p.K188R

c.563A>G

1 paper

NM_014225.6

p.S187F

c.560C>T

1 paper

NM_014225.6

p.L189P

c.566T>C

1 paper

NM_014225.6

p.G190R

c.568G>A

2 papers

NM_014225.6

p.E191K

c.571G>A

2 papers

NM_014225.6

p.E191G

c.572A>G

1 paper

NM_014225.6

p.A185T

c.553G>A

1 paper

NM_014225.6

p.A184A

c.552C>T

1 paper

NM_014225.6

p.F192L

c.574T>C

1 paper

NM_014225.6

p.F192L

c.576T>A

1 paper

NM_014225.6

p.F192F

c.576T>C

1 paper

NM_014225.6

p.F192L

c.576T>G