Varaico: Literature-Extracted Genetic Variants

Gene:PAK3
Variant:p.Y439*

PAK3

201 papers

RefSeq Summary

The protein encoded by this gene is a serine-threonine kinase and forms an activated complex with GTP-bound RAS-like (P21), CDC2 and RAC1. This protein may be necessary for dendritic development and f...

Pfam Domains

PBDaa 69–142UCSCP21-Rho-binding domain
Pkinaseaa 283–534UCSCProtein kinase domain

Gene Aliases

HGNC Name

p21 (RAC1) activated kinase 3

HGNC Previous Symbols

MRX30; MRX47

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002578.5
p.Y439*
c.1317T>A
Surrounding Variants
1 paper
NM_002578.5
p.Y439*
c.1317T>G
1 paper
NM_002578.5
p.P441L
c.1322C>T
1 paper
NM_002578.5
p.V443L
c.1327G>C
1 paper
NM_002578.5
p.R436*
c.1306C>T
1 paper
NM_002578.5
p.D444H
c.1330G>C
2 papers
NM_002578.5
p.W446*
c.1337G>A
11 papers
NM_002578.5
p.W446S
c.1337G>C
3 papers
NM_002578.5
p.S447F
c.1340C>T
1 paper
NM_002578.5
p.W428*
c.1284G>A
1 paper
NM_002578.5
p.W428*
c.1283G>A
4 papers
NM_002578.5
p.W428R
c.1282T>A
4 papers
NM_002578.5
p.W428R
c.1282T>C
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