Varaico: Literature-Extracted Genetic Variants

Gene:PAK1
Variant:p.R105C

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.R105C
c.313C>T
Surrounding Variants
10 papers
NM_002576.5
p.L107F
c.319C>T
1 paper
NM_002576.5
p.Q102P
c.305A>C
1 paper
NM_002576.5
p.T109A
c.325A>G
6 papers
NM_002576.5
p.S110T
c.328T>A
1 paper
NM_002576.5
p.I112fs
c.334_335fs
1 paper
NM_002576.5
p.S115_E116delFs
c.344_347del4
1 paper
NM_002576.5
p.K119K
c.357A>G
2 papers
NM_002576.5
p.P121S
c.361C>T
5 papers
NM_002576.5
p.P121L
c.362C>T
1 paper
NM_002576.5
p.D126N
c.376G>A
8 papers
NM_002576.5
p.Y131C
c.392A>G
1 paper
NM_002576.5
p.N132S
c.395A>G
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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."