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.T12S

c.34A>T

Surrounding Variants

1 paper

NM_018979.4

p.S11R

c.33C>A

1 paper

NM_018979.4

p.S11R

c.33C>G

1 paper

NM_018979.4

p.P13A

c.37C>G

1 paper

NM_018979.4

p.G14A

c.41G>C

1 paper

NM_018979.4

p.Q9R

c.26A>G

2 papers

NM_018979.4

p.Q9*

c.25C>T

1 paper

NM_018979.4

p.S15C

c.44C>G

1 paper

NM_018979.4

p.K8N

c.24G>T

1 paper

NM_018979.4

p.E7K

c.19G>A

1 paper

NM_018979.4

p.F17I

c.49T>A

1 paper

NM_018979.4

p.L18F

c.52C>T

1 paper

NM_018979.4

p.A6delFs

c.17delC