Varaico: Literature-Extracted Genetic Variants

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

1 paper

NM_002718.5

p.S341*

c.1022C>G

Surrounding Variants

1 paper

NM_002718.5

p.S341*

c.1022C>A

1 paper

NM_002718.5

p.V337D

c.1010T>A

1 paper

NM_002718.5

p.D336_V337del1

c.1008_1010delTGT

1 paper

NM_002718.5

p.D336_V337del2

c.1006_1010del6

1 paper

NM_002718.5

p.F322S

c.965T>C

1 paper

NM_002718.5

p.N379Fs

c.1135delinsGCFs

1 paper

NM_002718.5

p.R386K

c.1157G>A

1 paper

NM_002718.5

p.P293L

c.878C>T

1 paper

NM_002718.5

p.Q392L

c.1175A>T

1 paper

NM_002718.5

p.N405H

c.1213A>C

1 paper

NM_002718.5

p.D409D

c.1227C>T

1 paper

NM_002718.5

p.S272C

c.815C>G