Varaico: Literature-Extracted Genetic Variants

Gene:PPP2R3A
Variant:p.I249V

PPP2R3A

119 papers

RefSeq Summary

This gene encodes one of the regulatory subunits of the protein phosphatase 2. Protein phosphatase 2 (formerly named type 2A) is one of the four major Ser/Thr phosphatases and is implicated in the neg...

Pfam Domains

P2R3B_EF-handaa 731–790UCSCP2R3B, EF-hand
EF-hand_13aa 796–885UCSCEF-hand domain
EF-hand_7aa 900–1002UCSCEF-hand domain pair

Gene Aliases

HGNC Name

protein phosphatase 2 regulatory subunit B''alpha

HGNC Previous Symbol

PPP2R3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_002718.5
p.I249V
c.745A>G
Surrounding Variants
1 paper
NM_002718.5
p.C253R
c.757T>C
1 paper
NM_002718.5
p.I254K
c.761T>A
2 papers
NM_002718.5
p.E241K
c.721G>A
1 paper
NM_002718.5
p.K238delFs
c.714delA
1 paper
NM_002718.5
p.S272C
c.815C>G
1 paper
NM_002718.5
p.I220V
c.658A>G
1 paper
NM_002718.5
p.V211I
c.631G>A
1 paper
NM_002718.5
p.P293L
c.878C>T
1 paper
NM_002718.5
p.L193P
c.578T>C
1 paper
NM_002718.5
p.F322S
c.965T>C
1 paper
NM_002718.5
p.G175V
c.524G>T
1 paper
NM_002718.5
p.A171A
c.513C>G
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