Varaico: Literature-Extracted Genetic Variants

WNK4

289 papers

RefSeq Summary

This gene encodes a member of the WNK family of serine-threonine protein kinases. The kinase is part of the tight junction complex in kidney cells, and regulates the balance between NaCl reabsorption ...

Pfam Domains

Pkinaseaa 174–432UCSCProtein kinase domain

OSR1_Caa 453–515UCSCOxidative-stress-responsive kinase 1 C-terminal domain

CCTL2_WNKaa 673–750UCSCWNK CCTL2 domain

Gene Aliases

HGNC Name

WNK lysine deficient protein kinase 4

HGNC Previous Symbol

PRKWNK4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032387.5

p.E220del1

c.658_659delGAG

Surrounding Variants

1 paper

NM_032387.5

p.L225F

c.673C>T

1 paper

NM_032387.5

p.I233N

c.698T>A

1 paper

NM_032387.5

p.I233Fs

c.699delinsCAFs

1 paper

NM_032387.5

p.R235C

c.703C>T

1 paper

NM_032387.5

p.W240S

c.719G>C

1 paper

NM_032387.5

p.Q206_T207Splc

c.619-33G>T

1 paper

NM_032387.5

p.V251M

c.751G>A

1 paper

NM_032387.5

p.V251_G260delFs

c.752_780del29

1 paper

NM_032387.5

p.E255K

c.763G>A

1 paper

NM_032387.5

p.S259L

c.776C>T

1 paper

NM_032387.5

p.S259S

c.777G>A

1 paper

NM_032387.5

p.T261M

c.782C>T