PPP1R14C

Chr 6

protein phosphatase 1 regulatory inhibitor subunit 14C

Also known as: CPI17-like, KEPI, NY-BR-81

The degree of protein phosphorylation is regulated by a balance of protein kinase and phosphatase activities. Protein phosphatase-1 (PP1; see MIM 176875) is a signal-transducing phosphatase that influences neuronal activity, protein synthesis, metabolism, muscle contraction, and cell division. PPP1R14C is an inhibitor of PP1 (Liu et al., 2002 [PubMed 11812771]).[supplied by OMIM, Feb 2010]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
P/LP submissions
P/LP missense
1.34
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.34LOEUF
pLI 0.002
Z-score 0.92
OE 0.64 (0.341.34)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.67Z-score
OE missense 0.79 (0.640.97)
63 obs / 79.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.64 (0.341.34)
00.351.4
Missense OE?0.79 (0.640.97)
00.61.4
Synonymous OE?1.17
01.21.6
LoF obs/exp: 5 / 7.8Missense obs/exp: 63 / 79.9Syn Z: -0.73

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PPP1R14C · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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