Varaico: Literature-Extracted Genetic Variants

Gene:PAK4
Variant:p.E119K

PAK4

112 papers

RefSeq Summary

PAK proteins, a family of serine/threonine p21-activating kinases, include PAK1, PAK2, PAK3 and PAK4. PAK proteins are critical effectors that link Rho GTPases to cytoskeleton reorganization and nucle...

Pfam Domains

PBDaa 10–66UCSCP21-Rho-binding domain
Pkinaseaa 321–572UCSCProtein kinase domain

Gene Aliases

HGNC Name

p21 (RAC1) activated kinase 4

HGNC Previous Names

p21(CDKN1A)-activated kinase 4; p21 protein (Cdc42/Rac)-activated kinase 4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005884.5
p.E119K
c.355G>A
Surrounding Variants
1 paper
NM_005884.5
p.E119Q
c.355G>C
1 paper
NM_005884.5
p.P121S
c.361C>T
1 paper
NM_005884.5
p.P121L
c.362C>T
1 paper
NM_005884.5
p.R110P
c.329G>C
1 paper
NM_005884.5
p.R110L
c.329G>T
2 papers
NM_005884.5
p.P108L
c.323C>T
1 paper
NM_005884.5
p.R137W
c.409C>T
2 papers
NM_005884.5
p.A139T
c.415G>A
1 paper
NM_005884.5
p.A139P
c.415G>C
1 paper
NM_005884.5
p.S99A
c.295T>G
1 paper
NM_005884.5
p.R96H
c.287G>A
1 paper
NM_005884.5
p.R96C
c.286C>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."