Varaico: Literature-Extracted Genetic Variants

PPP1CA

56 papers

RefSeq Summary

The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). This broadly expressed gene encodes the alpha subunit of the PP1 complex that associates with ov...

Pfam Domains

STPPase_Naa 9–56UCSCSerine-threonine protein phosphatase N-terminal domain

Metallophosaa 57–252UCSCCalcineurin-like phosphoesterase

Gene Aliases

HGNC Name

protein phosphatase 1 catalytic subunit alpha

HGNC Previous Symbol

PPP1A

Papers

RefSeq ID

Protein change

DNA change

1–12 of 45 variants

3 papers

NM_002708.4

p.T320A

c.958A>G

2 papers

NM_002708.4

p.D64A

c.191A>C

2 papers

NM_002708.4

p.L107Q

c.320T>A

2 papers

NM_002708.4

p.D203N

c.607G>A

2 papers

NM_002708.4

p.L289R

c.866T>G

1 paper

NM_002708.4

p.D10N

c.28G>A

1 paper

NM_002708.4

p.S11W

c.32C>G

1 paper

NM_002708.4

p.Q20R

c.59A>G

1 paper

NM_002708.4

p.L40L

c.118C>T

1 paper

NM_002708.4

p.R43Q

c.128G>A

1 paper

NM_002708.4

p.G67S

c.199G>A

1 paper

NM_002708.4

p.Q68H

c.204G>T