Varaico: Literature-Extracted Genetic Variants

Gene:PAK5
Variant:p.S290L

PAK5

200 papers

RefSeq Summary

The protein encoded by this gene is a member of the PAK family of Ser/Thr protein kinases. PAK family members are known to be effectors of Rac/Cdc42 GTPases, which have been implicated in the regulati...

Pfam Domains

PBDaa 10–67UCSCP21-Rho-binding domain
Pkinaseaa 449–700UCSCProtein kinase domain

Gene Aliases

HGNC Name

p21 (RAC1) activated kinase 5

HGNC Previous Symbol

PAK7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_177990.4
p.S290L
c.869C>T
Surrounding Variants
1 paper
NM_177990.4
p.S288L
c.863C>T
1 paper
NM_177990.4
p.S288A
c.862T>G
2 papers
NM_177990.4
p.S288T
c.862T>A
1 paper
NM_177990.4
p.E294K
c.880G>A
1 paper
NM_177990.4
p.P295L
c.884C>T
1 paper
NM_177990.4
p.M297R
c.890T>G
1 paper
NM_177990.4
p.P298S
c.892C>T
2 papers
NM_177990.4
p.Q279K
c.835C>A
1 paper
NM_177990.4
p.S302R
c.906T>A
1 paper
NM_177990.4
p.K305N
c.915A>T
1 paper
NM_177990.4
p.K305N
c.915A>C
1 paper
NM_177990.4
p.P308L
c.923C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."