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

6 papers

NM_032387.5

p.A494T

c.1480G>A

Surrounding Variants

1 paper

NM_032387.5

p.R508H

c.1523G>A

1 paper

NM_032387.5

p.R508R

c.1524T>C

1 paper

NM_032387.5

p.E512delFs

c.1535delA

1 paper

NM_032387.5

p.R513W

c.1537C>T

1 paper

NM_032387.5

p.M492_V493Splc

c.1477-64C>T

1 paper

NM_032387.5

p.R521H

c.1562G>A

1 paper

NM_032387.5

p.R525H

c.1574G>A

1 paper

NM_032387.5

p.R528K

c.1583G>A

1 paper

NM_032387.5

p.L533P

c.1598T>C

1 paper

NM_032387.5

p.G538A

c.1613G>C

2 papers

NM_032387.5

p.T543A

c.1627A>G

5 papers

NM_032387.5

p.M546V

c.1636A>G