Varaico: Literature-Extracted Genetic Variants

Gene:PAK1
Variant:p.N132S

PAK1

276 papers

RefSeq Summary

This gene encodes a family member of serine/threonine p21-activating kinases, known as PAK proteins. These proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nucle...

Pfam Domains

PBDaa 1–34UCSCP21-Rho-binding domain
PBDaa 74–132UCSCP21-Rho-binding domain
Pkinaseaa 270–521UCSCProtein kinase domain

Gene Aliases

HGNC Name

p21 (RAC1) activated kinase 1

HGNC Previous Names

p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related); p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast); p21 protein (Cdc42/Rac)-activated kinase 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002576.5
p.N132S
c.395A>G
Surrounding Variants
2 papers
NM_002576.5
p.N132K
c.396C>G
2 papers
NM_002576.5
p.N132K
c.396C>A
5 papers
NM_002576.5
p.S133P
c.397T>C
8 papers
NM_002576.5
p.Y131C
c.392A>G
2 papers
NM_002576.5
p.K135Q
c.403A>C
1 paper
NM_002576.5
p.T136S
c.406A>T
1 paper
NM_002576.5
p.T136K
c.407C>A
1 paper
NM_002576.5
p.D126N
c.376G>A
1 paper
NM_002576.5
p.S139N
c.416G>A
1 paper
NM_002576.5
p.Y142F
c.425A>T
3 papers
NM_002576.5
p.M143V
c.427A>G
3 papers
NM_002576.5
p.M143T
c.428T>C
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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."