Varaico: Literature-Extracted Genetic Variants

Gene:PAK3
Variant:p.E486Q

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.E486Q
c.1456G>C
Surrounding Variants
1 paper
NM_002578.5
p.P485T
c.1453C>A
3 papers
NM_002578.5
p.P485fs
c.1453_1454fs
3 papers
NM_002578.5
p.P485delFs
c.1454delC
1 paper
NM_002578.5
p.Q483R
c.1448A>G
1 paper
NM_002578.5
p.V491I
c.1471G>A
1 paper
NM_002578.5
p.P480P
c.1440A>T
1 paper
NM_002578.5
p.P480A
c.1438C>G
8 papers
NM_002578.5
p.R493C
c.1477C>T
1 paper
NM_002578.5
p.I474M
c.1422A>G
1 paper
NM_002578.5
p.R498C
c.1492C>T
1 paper
NM_002578.5
p.L500I
c.1498C>A
1 paper
NM_002578.5
p.L500V
c.1498C>G
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