Varaico: Literature-Extracted Genetic Variants

Gene:PAK1
Variant:p.Q304*

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.Q304*
c.910C>T
Surrounding Variants
1 paper
NM_002576.5
p.L303R
c.908T>G
1 paper
NM_002576.5
p.P307L
c.920C>T
1 paper
NM_002576.5
p.Q300E
c.898C>G
1 paper
NM_002576.5
p.K308N
c.924G>T
1 paper
NM_002576.5
p.K308N
c.924G>C
36 papers
NM_002576.5
p.K299R
c.896A>G
1 paper
NM_002576.5
p.A297V
c.890C>T
1 paper
NM_002576.5
p.I312S
c.935T>G
1 paper
NM_002576.5
p.Q300_E315delFs
c.899_944del46
1 paper
NM_002576.5
p.I327F
c.979A>T
1 paper
NM_002576.5
p.N329S
c.986A>G
2 papers
NM_002576.5
p.Y334F
c.1001A>T
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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."