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.S390_G391Splc

c.1170+145G>A

Surrounding Variants

1 paper

NM_032387.5

p.R386H

c.1157G>A

1 paper

NM_032387.5

p.E377*

c.1129G>T

1 paper

NM_032387.5

p.Y352S

c.1055A>C

1 paper

NM_032387.5

p.R392*

c.1174A>T

1 paper

NM_032387.5

p.V405E

c.1214T>A

2 papers

NM_032387.5

p.V405V

c.1215G>A

1 paper

NM_032387.5

p.K406delFs

c.1218delG

1 paper

NM_032387.5

p.E407fs

c.1219_1220fs

1 paper

NM_032387.5

p.R414_N418del5

c.1240_1253del15

1 paper

NM_032387.5

p.R414P

c.1241G>C

1 paper

NM_032387.5

p.T415P

c.1243A>C

1 paper

NM_032387.5

p.N418T

c.1253A>C