Varaico: Literature-Extracted Genetic Variants

Gene:PAK1
Variant:p.T423A

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
3 papers
NM_002576.5
p.T423A
c.1267A>G
Surrounding Variants
1 paper
NM_002576.5
p.S422N
c.1265G>A
1 paper
NM_002576.5
p.Q418H
c.1254G>C
7 papers
NM_002576.5
p.Y429C
c.1286A>G
1 paper
NM_002576.5
p.F410L
c.1230C>A
1 paper
NM_002576.5
p.D407N
c.1219G>A
1 paper
NM_002576.5
p.T406A
c.1216A>G
1 paper
NM_002576.5
p.P443S
c.1327C>T
1 paper
NM_002576.5
p.P443T
c.1327C>A
1 paper
NM_002576.5
p.M453T
c.1358T>C
1 paper
NM_002576.5
p.P463L
c.1388C>T
1 paper
NM_002576.5
p.Y464*
c.1392C>A
1 paper
NM_002576.5
p.L465F
c.1393C>T
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