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.S1006A

c.3016T>G

Surrounding Variants

2 papers

NM_032387.5

p.E987_A988Splc

c.2962-39C>T

1 paper

NM_032387.5

p.E1008Splc

c.3023-1G>A

1 paper

NM_032387.5

p.P1011R

c.3032C>G

1 paper

NM_032387.5

p.R1016H

c.3047G>A

3 papers

NM_032387.5

p.P1025L

c.3074C>T

1 paper

NM_032387.5

p.P1036delFs

c.3108delC

4 papers

NM_032387.5

p.P967S

c.2899C>T

1 paper

NM_032387.5

p.T1037fs

c.3109_3110fs

2 papers

NM_032387.5

p.P961S

c.2881C>T

1 paper

NM_032387.5

p.S1045L

c.3134C>T

1 paper

NM_032387.5

p.A955A

c.2865C>T

1 paper

NM_032387.5

p.E1052Q

c.3154G>C