Varaico: Literature-Extracted Genetic Variants

Gene:PPP2CA
Variant:p.L309V

PPP2CA

93 papers

RefSeq Summary

This gene encodes the phosphatase 2A catalytic subunit. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. ...

Pfam Domains

Metallophosaa 50–245UCSCCalcineurin-like phosphoesterase

Gene Aliases

HGNC Name

protein phosphatase 2 catalytic subunit alpha

HGNC Alias Symbols

PP2Calpha; PP2AC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002715.4
p.L309V
c.925C>G
Surrounding Variants
3 papers
NM_002715.4
p.F308ins0
c.922_924dupTTC
1 paper
NM_002715.4
p.F308del1
c.922_924delGAA
2 papers
NM_002715.4
p.Y307F
c.920A>T
1 paper
NM_002715.4
p.Y307D
c.919T>G
1 paper
NM_002715.4
p.T304A
c.910A>G
1 paper
NM_002715.4
p.E297K
c.889G>A
7 papers
NM_002715.4
p.R295*
c.883A>T
4 papers
NM_002715.4
p.R294insFs
c.882dupT
1 paper
NM_002715.4
p.P293_R294delFs
c.879_880delGA
1 paper
NM_002715.4
p.E277*
c.829G>T
8 papers
NM_002715.4
p.Y265C
c.794A>G
1 paper
NM_002715.4
p.T258P
c.772A>C
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