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

6 papers

NM_018979.4

p.D531delFs

c.1591_1592delGA

Surrounding Variants

1 paper

NM_018979.4

p.E529E

c.1587G>A

4 papers

NM_018979.4

p.D531fs

c.1591_1592fs

1 paper

NM_018979.4

p.D535N

c.1603G>A

1 paper

NM_018979.4

p.E539A

c.1616A>C

1 paper

NM_018979.4

p.M540V

c.1618A>G

1 paper

NM_018979.4

p.Y516insFs

c.1547_1548insC

1 paper

NM_018979.4

p.Y516C

c.1547A>G

2 papers

NM_018979.4

p.Y516insFs

c.1546_1547insC

1 paper

NM_018979.4

p.L512delins

c.1534_1535delinsAG

1 paper

NM_018979.4

p.E507K

c.1519G>A

1 paper

NM_018979.4

p.E496*

c.1486G>T

1 paper

NM_018979.4

p.E492K

c.1474G>A