Varaico: Literature-Extracted Genetic Variants

Gene:PAK4
Variant:p.S474A

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
2 papers
NM_005884.5
p.S474A
c.1420T>G
Surrounding Variants
1 paper
NM_005884.5
p.S474*
c.1421C>A
1 paper
NM_005884.5
p.S474L
c.1421C>T
1 paper
NM_005884.5
p.V476I
c.1426G>A
1 paper
NM_005884.5
p.P479L
c.1436C>T
1 paper
NM_005884.5
p.W481*
c.1442G>A
1 paper
NM_005884.5
p.W481*
c.1443G>A
1 paper
NM_005884.5
p.M482K
c.1445T>A
2 papers
NM_005884.5
p.F461V
c.1381T>G
1 paper
NM_005884.5
p.S500L
c.1499C>T
1 paper
NM_005884.5
p.D510D
c.1530C>T
1 paper
NM_005884.5
p.G511R
c.1531G>A
1 paper
NM_005884.5
p.G511R
c.1531G>C
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