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

2 papers

NM_032387.5

p.S630A

c.1888T>G

Surrounding Variants

1 paper

NM_032387.5

p.S630P

c.1888T>C

1 paper

NM_032387.5

p.G631S

c.1891G>A

1 paper

NM_032387.5

p.G633R

c.1897G>A

1 paper

NM_032387.5

p.G633R

c.1897G>C

1 paper

NM_032387.5

p.D635N

c.1903G>A

1 paper

NM_032387.5

p.D635A

c.1904A>C

1 paper

NM_032387.5

p.D635E

c.1905C>A

1 paper

NM_032387.5

p.D635E

c.1905C>G

1 paper

NM_032387.5

p.S641T

c.1922G>C

1 paper

NM_032387.5

p.Y642_A643insFs

c.1926_1927insT

1 paper

NM_032387.5

p.A646delFs

c.1938delA

2 papers

NM_032387.5

p.R669W

c.2005C>T