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.G1211Splc

c.3632-15C>G

Surrounding Variants

1 paper

NM_032387.5

p.R1215R

c.3645G>A

1 paper

NM_032387.5

p.S1217A

c.3649T>G

2 papers

NM_032387.5

p.R1229W

c.3685C>T

1 paper

NM_032387.5

p.G1209fs

c.3625_3626fs

1 paper

NM_032387.5

p.P1208insFs

c.3623dupC

1 paper

NM_032387.5

p.S1205C

c.3614C>G

2 papers

NM_032387.5

p.R1204C

c.3610C>T

1 paper

NM_032387.5

p.S1190A

c.3568T>G

1 paper

NM_032387.5

p.R1188H

c.3563G>A

1 paper

NM_032387.5

p.R1185H

c.3554G>A

27 papers

NM_032387.5

p.R1185C

c.3553C>T

5 papers

NM_032387.5

p.P1173T

c.3517C>A