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.Q1139*

c.3415C>T

Surrounding Variants

1 paper

NM_032387.5

p.W1135*

c.3405G>A

1 paper

NM_032387.5

p.E1132fs

c.3394_3395fs

1 paper

NM_032387.5

p.D1131insFs

c.3393dupT

1 paper

NM_032387.5

p.S1116R

c.3348C>A

1 paper

NM_032387.5

p.S1116R

c.3348C>G

1 paper

NM_032387.5

p.S1116R

c.3346A>C

1 paper

NM_032387.5

p.Q1153E

c.3457C>G

1 paper

NM_032387.5

p.K1158N

c.3474A>C

1 paper

NM_032387.5

p.K1158N

c.3474A>T

1 paper

NM_032387.5

p.G1088R

c.3262G>A

1 paper

NM_032387.5

p.G1088R

c.3262G>C

1 paper

NM_032387.5

p.D1162H

c.3484G>C