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

5 papers

NM_032387.5

p.M546V

c.1636A>G

Surrounding Variants

3 papers

NM_032387.5

p.A547A

c.1641C>T

1 paper

NM_032387.5

p.P548A

c.1642C>G

2 papers

NM_032387.5

p.T543A

c.1627A>G

1 paper

NM_032387.5

p.G549S

c.1645G>A

1 paper

NM_032387.5

p.P551P

c.1653C>T

1 paper

NM_032387.5

p.S552G

c.1654A>G

1 paper

NM_032387.5

p.G538A

c.1613G>C

1 paper

NM_032387.5

p.F554fs

c.1660_1661fs

1 paper

NM_032387.5

p.P555A

c.1663C>G

3 papers

NM_032387.5

p.P555R

c.1664C>G

7 papers

NM_032387.5

p.P556T

c.1666C>A

1 paper

NM_032387.5

p.P558H

c.1673C>A