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.T209T

c.627C>A

Surrounding Variants

1 paper

NM_018979.4

p.L207delFs

c.620_621delTG

5 papers

NM_018979.4

p.G213delFs

c.639delA

1 paper

NM_018979.4

p.I204I

c.612C>A

1 paper

NM_018979.4

p.S215C

c.644C>G

1 paper

NM_018979.4

p.N216H

c.646A>C

1 paper

NM_018979.4

p.Q199P

c.596A>C

1 paper

NM_018979.4

p.S198R

c.592A>C

1 paper

NM_018979.4

p.L221insFs

c.662_663insG

1 paper

NM_018979.4

p.L221L

c.663C>T

1 paper

NM_018979.4

p.I225F

c.673A>T

1 paper

NM_018979.4

p.I225N

c.674T>A

1 paper

NM_018979.4

p.P193P

c.579A>T