Varaico: Literature-Extracted Genetic Variants

PPP1CC

68 papers

RefSeq Summary

The protein encoded by this gene belongs to the protein phosphatase family, PP1 subfamily. PP1 is an ubiquitous serine/threonine phosphatase that regulates many cellular processes, including cell divi...

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 gamma

HGNC Alias Symbols

PP1C; PP1gamma

Papers

RefSeq ID

Protein change

DNA change

1–12 of 43 variants

9 papers

NM_002710.4

p.F227S

c.680T>C

3 papers

NM_002710.4

p.P50R

c.149C>G

3 papers

NM_002710.4

p.I244L

c.730A>T

3 papers

NM_002710.4

p.I244L

c.730A>C

2 papers

NM_002710.4

p.L266fs

c.796_797fs

2 papers

NM_002710.4

p.L266delFs

c.796_797delAG

1 paper

NM_002710.4

p.K6R

c.17A>G

1 paper

NM_002710.4

p.D64A

c.191A>C

1 paper

NM_002710.4

p.D92N

c.274G>A

1 paper

NM_002710.4

p.K98R

c.293A>G

1 paper

NM_002710.4

p.C105R

c.313T>C

1 paper

NM_002710.4

p.E116D

c.348G>T