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.L299L

c.897G>A

Surrounding Variants

1 paper

NM_018979.4

p.T301A

c.901A>G

2 papers

NM_018979.4

p.K294R

c.881A>G

1 paper

NM_018979.4

p.T305A

c.913A>G

1 paper

NM_018979.4

p.K294Q

c.880A>C

5 papers

NM_018979.4

p.S306_G307insFs

c.918_919insA

4 papers

NM_018979.4

p.G307insFs

c.919_920insA

1 paper

NM_018979.4

p.T290A

c.868A>G

1 paper

NM_018979.4

p.T290S

c.868A>T

1 paper

NM_018979.4

p.K310R

c.929A>G

1 paper

NM_018979.4

p.E288D

c.864A>T

4 papers

NM_018979.4

p.S286F

c.857C>T

1 paper

NM_018979.4

p.P278A

c.832C>G