Varaico: Literature-Extracted Genetic Variants

Gene:PAK1
Variant:p.H83L
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PAK1

NM_002576.5:p.H83L

Associated Papers

PAK1 regulates oligodendroglial proliferation and repopulation in homeostatic and demyelinating brain.

Wang Y et al.

Cellular and Molecular Life Sciences : Cmls, 2025

Control of OPC proliferation and repopulation by the intellectual disability gene PAK1 under homeostatic and demyelinating conditions.

Wang Y et al.

Biorxiv : the Preprint Server for Biology, 2024

MICAL1 activation by PAK1 mediates actin filament disassembly.

McGarry DJ et al.

Cell Reports, 2022

Periostin/Filamin-A: A Candidate Central Regulatory Axis for Valve Fibrogenesis and Matrix Compaction.

Misra S et al.

Frontiers in Cell and Developmental Biology, 2021

The subcellular localization of type I p21-activated kinases is controlled by the disordered variable region and polybasic sequences.

Sun X et al.

The Journal of Biological Chemistry, 2019

Synapses of amphids defective (SAD-A) kinase promotes glucose-stimulated insulin secretion through activation of p21-activated kinase (PAK1) in pancreatic β-Cells.

Nie J et al.

The Journal of Biological Chemistry, 2012

Novel tumor suppressive function of Smad4 in serum starvation-induced cell death through PAK1-PUMA pathway.

Lee SH et al.

Cell Death & Disease, 2011

A single pair of acidic residues in the kinase major groove mediates strong substrate preference for P-2 or P-5 arginine in the AGC, CAMK, and STE kinase families.

Zhu G et al.

The Journal of Biological Chemistry, 2005

The active conformation of the PAK1 kinase domain.

Lei M et al.

Structure (london, England : 1993), 2005

Pak1 kinase homodimers are autoinhibited in trans and dissociated upon activation by Cdc42 and Rac1.

Parrini MC et al.

Molecular Cell, 2002

p21-activated kinase-1 (PAK1) inhibition of the human scavenger receptor class B, type I promoter in macrophages is independent of PAK1 kinase activity, but requires the GTPase-binding domain.

Hullinger TG et al.

The Journal of Biological Chemistry, 2001

Cdc42: An essential Rho-type GTPase controlling eukaryotic cell polarity.

Johnson DI

Microbiology and Molecular Biology Reviews : Mmbr, 1999

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."