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.S841P

c.2521T>C

Surrounding Variants

1 paper

NM_032387.5

p.P825L

c.2474C>T

1 paper

NM_032387.5

p.P858L

c.2573C>T

1 paper

NM_032387.5

p.P819L

c.2456C>T

1 paper

NM_001321299.2

p.S531del1

c.1591_1593delTCC

1 paper

NM_032387.5

p.P816R

c.2447C>G

1 paper

NM_001321299.2

p.S532del1

c.1594_1595delAGC

1 paper

NM_032387.5

p.P813L

c.2438C>T

1 paper

NM_032387.5

p.G808A

c.2423G>C

1 paper

NM_032387.5

p.V874A

c.2621T>C

1 paper

NM_032387.5

p.S805P

c.2413T>C

1 paper

NM_032387.5

p.S806del1

c.2416_2418delTCT

1 paper

NM_032387.5

p.R795T

c.2384G>C