Varaico: Literature-Extracted Genetic Variants

Gene:PAK1
Variant:p.D389N

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
4 papers
NM_002576.5
p.D389N
c.1165G>A
Surrounding Variants
1 paper
NM_002576.5
p.D389Y
c.1165G>T
2 papers
NM_002576.5
p.D393A
c.1178A>C
4 papers
NM_002576.5
p.S382L
c.1145C>T
1 paper
NM_002576.5
p.S382A
c.1144T>G
2 papers
NM_002576.5
p.Q375H
c.1125G>T
2 papers
NM_002576.5
p.Q375H
c.1125G>C
1 paper
NM_002576.5
p.T406Splc
c.1217-149G>T
1 paper
NM_002576.5
p.T406A
c.1216A>G
1 paper
NM_002576.5
p.D407N
c.1219G>A
1 paper
NM_002576.5
p.F410L
c.1230C>A
1 paper
NM_002576.5
p.Q418H
c.1254G>C
1 paper
NM_002576.5
p.S422N
c.1265G>A
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