Varaico: Literature-Extracted Genetic Variants

WNK1

951 papers

RefSeq Summary

This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride io...

Pfam Domains

Pkinaseaa 221–479UCSCProtein kinase domain

OSR1_Caa 500–563UCSCOxidative-stress-responsive kinase 1 C-terminal domain

CCTL2_WNKaa 870–947UCSCWNK CCTL2 domain

CCTL2_WNKaa 1117–1194UCSCWNK CCTL2 domain

Gene Aliases

HGNC Name

WNK lysine deficient protein kinase 1

HGNC Previous Symbols

PRKWNK1; HSN2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018979.4

p.R329C

c.985C>T

Surrounding Variants

1 paper

NM_018979.4

p.I331N

c.992T>A

1 paper

NM_018979.4

p.S326insFs

c.977_978insC

1 paper

NM_018979.4

p.K333*

c.997A>T

1 paper

NM_018979.4

p.K333R

c.998A>G

1 paper

NM_018979.4

p.G334R

c.1000G>C

1 paper

NM_018979.4

p.K320R

c.959A>G

1 paper

NM_018979.4

p.L338insFs

c.1012_1013insT

1 paper

NM_018979.4

p.M319I

c.957G>A

1 paper

NM_018979.4

p.M319I

c.957G>C

1 paper

NM_018979.4

p.M319I

c.957G>T

1 paper

NM_018979.4

p.H339_T340delFs

c.1017_1018delTA

4 papers

NM_018979.4

p.V318E

c.953T>A