Varaico: Literature-Extracted Genetic Variants

Gene:PAK1
Variant:p.H86L

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
10 papers
NM_002576.5
p.H86L
c.257A>T
Surrounding Variants
2 papers
NM_002576.5
p.T84R
c.251C>G
12 papers
NM_002576.5
p.H83L
c.248A>T
1 paper
NM_002576.5
p.F81delFs
c.242_243delAA
1 paper
NM_002576.5
p.S79A
c.235T>G
1 paper
NM_002576.5
p.G94G
c.282G>T
1 paper
NM_002576.5
p.P78S
c.232C>T
1 paper
NM_002576.5
p.E95A
c.284A>C
1 paper
NM_002576.5
p.S76_L77insCA
c.226_230ins6
1 paper
NM_002576.5
p.S76P
c.226T>C
1 paper
NM_002576.5
p.I75N
c.224T>A
2 papers
NM_002576.5
p.P73L
c.218C>T
1 paper
NM_002576.5
p.E71K
c.211G>A
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