Varaico: Literature-Extracted Genetic Variants

PPP1R14D

8 papers

RefSeq Summary

Protein phosphatase-1 (PP1; see MIM 176875) is a major cellular phosphatase that reverses serine/threonine protein phosphorylation. PPP1R14D is a PP1 inhibitor that itself is regulated by phosphorylat...

Pfam Domains

PP1_inhibitoraa 23–90UCSCPKC-activated protein phosphatase-1 inhibitor

Gene Aliases

HGNC Name

protein phosphatase 1 regulatory inhibitor subunit 14D

HGNC Alias Symbols

CPI17-like; FLJ20251; GBPI-1; MGC119014; MGC119016

Papers

RefSeq ID

Protein change

DNA change

1 paper

NM_017726.8

p.K21E

c.61A>G

1 paper

NM_017726.8

p.K22E

c.64A>G

1 paper

NM_017726.8

p.Q81*

c.241C>T

1 paper

NM_017726.8

p.S91T

c.271T>A

1 paper

NM_017726.8

p.Q108R

c.323A>G

1 paper

NM_017726.8

p.P122S

c.364C>T

1 paper

NM_017726.8

p.K135R

c.404A>G