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.P605delFs

c.1815delT

Surrounding Variants

2 papers

NM_032387.5

p.P605fs

c.1813_1814fs

1 paper

NM_032387.5

p.G606insFs

c.1816dupG

2 papers

NM_032387.5

p.V608delFs

c.1822delG

2 papers

NM_032387.5

p.G606fs

c.1816_1817fs

5 papers

NM_032387.5

p.A601S

c.1801G>T

1 paper

NM_032387.5

p.D599D

c.1797C>T

1 paper

NM_032387.5

p.A613delFs

c.1837delG

1 paper

NM_032387.5

p.A613fs

c.1837_1838fs

1 paper

NM_032387.5

p.L617V

c.1849C>G

1 paper

NM_032387.5

p.C618F

c.1853G>T

1 paper

NM_032387.5

p.S630P

c.1888T>C

2 papers

NM_032387.5

p.S630A

c.1888T>G