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

Selected Variant

1 paper

NM_002708.4

p.K113E

c.337A>G

Surrounding Variants

1 paper

NM_002708.4

p.E116D

c.348G>T

1 paper

NM_002708.4

p.E116D

c.348G>C

2 papers

NM_002708.4

p.L107Q

c.320T>A

1 paper

NM_002708.4

p.N124S

c.371A>G

1 paper

NM_002708.4

p.H125P

c.374A>C

1 paper

NM_002708.4

p.H125Q

c.375C>G

1 paper

NM_002708.4

p.H125Q

c.375C>A

1 paper

NM_002708.4

p.E126K

c.376G>A

1 paper

NM_002708.4

p.E126D

c.378G>T

1 paper

NM_002708.4

p.E126D

c.378G>C

1 paper

NM_002708.4

p.D95N

c.283G>A

1 paper

NM_002708.4

p.G135S

c.403G>A