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.E1072Q

c.3214G>C

Surrounding Variants

1 paper

NM_032387.5

p.E1068Q

c.3202G>C

1 paper

NM_032387.5

p.E1065Q

c.3193G>C

1 paper

NM_032387.5

p.G1081E

c.3242G>A

1 paper

NM_032387.5

p.E1057Q

c.3169G>C

1 paper

NM_032387.5

p.T1056P

c.3166A>C

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.E1052Q

c.3154G>C

1 paper

NM_032387.5

p.S1045L

c.3134C>T

1 paper

NM_032387.5

p.T1037fs

c.3109_3110fs

1 paper

NM_032387.5

p.P1036delFs

c.3108delC

1 paper

NM_032387.5

p.S1116R

c.3346A>C