Varaico: Literature-Extracted Genetic Variants

Gene:PAK4
Variant:p.D353Y

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.D353Y
c.1057G>T
Surrounding Variants
7 papers
NM_005884.5
p.K350M
c.1049A>T
1 paper
NM_005884.5
p.Q357fs
c.1069_1070fs
1 paper
NM_005884.5
p.Q357Fs
c.1070delinsGCFs
1 paper
NM_005884.5
p.G333D
c.998G>A
1 paper
NM_005884.5
p.T332fs
c.994_995fs
1 paper
NM_005884.5
p.E329D
c.987G>C
1 paper
NM_005884.5
p.E329D
c.987G>T
2 papers
NM_005884.5
p.E329K
c.985G>A
1 paper
NM_005884.5
p.I327L
c.979A>C
1 paper
NM_001014834.3
p.Q150R
c.449A>G
1 paper
NM_005884.5
p.R290C
c.868C>T
1 paper
NM_005884.5
p.A279T
c.835G>A
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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."