Varaico: Literature-Extracted Genetic Variants

Gene:PAK1
Variant:p.D183del1

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
5 papers
NM_002576.5
p.D183del1
c.547_548delATC
Surrounding Variants
1 paper
NM_002576.5
p.A184ins1
c.550_551insATG
1 paper
NM_002576.5
p.T185A
c.553A>G
2 papers
NM_002576.5
p.D183_A184del2
c.547_551del6
1 paper
NM_002576.5
p.P186L
c.557C>T
1 paper
NM_002576.5
p.D182A
c.545A>C
1 paper
NM_002576.5
p.P187L
c.560C>T
1 paper
NM_002576.5
p.D180E
c.540T>G
1 paper
NM_002576.5
p.D180E
c.540T>A
1 paper
NM_002576.5
p.D180Y
c.538G>T
1 paper
NM_002576.5
p.D178E
c.534T>G
1 paper
NM_002576.5
p.D178E
c.534T>A
1 paper
NM_002576.5
p.E177D
c.531G>T
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