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

1–12 of 236 variants

60 papers

NM_032387.5

p.Q565E

c.1693C>G

40 papers

NM_032387.5

p.D564A

c.1691A>C

38 papers

NM_032387.5

p.E562K

c.1684G>A

27 papers

NM_032387.5

p.R1185C

c.3553C>T

13 papers

NM_032387.5

p.D321A

c.962A>C

13 papers

NM_032387.5

p.E559K

c.1675G>A

10 papers

NM_032387.5

p.D564H

c.1690G>C

7 papers

NM_032387.5

p.P556T

c.1666C>A

6 papers

NM_032387.5

p.A494T

c.1480G>A

5 papers

NM_032387.5

p.M546V

c.1636A>G

5 papers

NM_032387.5

p.P561L

c.1682C>T

5 papers

NM_032387.5

p.A601S

c.1801G>T