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

2 papers

NM_018979.4

p.S622fs

c.1864_1865fs

Surrounding Variants

2 papers

NM_018979.4

p.S622_V627delFs

c.1865_1880del16

1 paper

NM_018979.4

p.V623G

c.1868T>G

1 paper

NM_018979.4

p.T625A

c.1873A>G

1 paper

NM_018979.4

p.S620_A621del2

c.1858_1862del6

5 papers

NM_018979.4

p.E630K

c.1888G>A

2 papers

NM_018979.4

p.E630G

c.1889A>G

1 paper

NM_018979.4

p.E631K

c.1891G>A

1 paper

NM_018979.4

p.G612D

c.1835G>A

1 paper

NM_018979.4

p.E633K

c.1897G>A

1 paper

NM_018979.4

p.E633E

c.1899G>A

4 papers

NM_018979.4

p.A634T

c.1900G>A

1 paper

NM_018979.4

p.A634G

c.1901C>G