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

1–12 of 105 variants

2 papers

NM_002718.5

p.D67G

c.200A>G

2 papers

NM_002718.5

p.G78R

c.232G>A

2 papers

NM_002718.5

p.G78R

c.232G>C

2 papers

NM_002718.5

p.E241K

c.721G>A

2 papers

NM_002718.5

p.I249V

c.745A>G

2 papers

NM_002718.5

p.R711Q

c.2132G>A

2 papers

NM_002718.5

p.F777delFs

c.2331delT

2 papers

NM_002718.5

p.F1000L

c.2998T>C

2 papers

NM_002718.5

p.F1000L

c.3000C>A

2 papers

NM_002718.5

p.F1000L

c.3000C>G

1 paper

NM_002718.5

p.T4S

c.10A>T

1 paper

NM_002718.5

p.H14N

c.40C>A