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

Selected Variant

1 paper

NM_005884.5

p.G231E

c.692G>A

Surrounding Variants

1 paper

NM_005884.5

p.N230Y

c.688A>T

1 paper

NM_005884.5

p.S233P

c.697T>C

1 paper

NM_005884.5

p.V227M

c.679G>A

1 paper

NM_005884.5

p.A238S

c.712G>T

1 paper

NM_005884.5

p.Q221_G222Splc

c.664-1G>T

2 papers

NM_005884.5

p.S247del1

c.739_741delTCC

1 paper

NM_005884.5

p.S246F

c.737C>T

2 papers

NM_005884.5

p.R248Q

c.743G>A

1 paper

NM_005884.5

p.A279T

c.835G>A

1 paper

NM_005884.5

p.R290C

c.868C>T

1 paper

NM_001014834.3

p.Q150R

c.449A>G

1 paper

NM_005884.5

p.P204Fs

c.611delinsGCFs