Varaico: Literature-Extracted Genetic Variants

PAK4

112 papers

RefSeq Summary

PAK proteins, a family of serine/threonine p21-activating kinases, include PAK1, PAK2, PAK3 and PAK4. PAK proteins are critical effectors that link Rho GTPases to cytoskeleton reorganization and nucle...

Pfam Domains

PBDaa 10–66UCSCP21-Rho-binding domain

Pkinaseaa 321–572UCSCProtein kinase domain

Gene Aliases

HGNC Name

p21 (RAC1) activated kinase 4

HGNC Previous Names

p21(CDKN1A)-activated kinase 4; p21 protein (Cdc42/Rac)-activated kinase 4

Papers

RefSeq ID

Protein change

DNA change

1–12 of 111 variants

7 papers

NM_005884.5

p.K350M

c.1049A>T

3 papers

NM_005884.5

p.I417T

c.1250T>C

2 papers

NM_005884.5

p.E18V

c.53A>T

2 papers

NM_005884.5

p.P108L

c.323C>T

2 papers

NM_005884.5

p.A139T

c.415G>A

2 papers

NM_005884.5

p.S247del1

c.739_741delTCC

2 papers

NM_005884.5

p.R248Q

c.743G>A

2 papers

NM_005884.5

p.E329K

c.985G>A

2 papers

NM_005884.5

p.F461V

c.1381T>G

2 papers

NM_005884.5

p.S474A

c.1420T>G

2 papers

NM_005884.5

p.R555G

c.1663C>G

1 paper

NM_005884.5

p.G3delFs

c.7delG