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.E251_Q253del0

c.751_759del9

Surrounding Variants

1 paper

NM_018979.4

p.W249L

c.746G>T

1 paper

NM_018979.4

p.L252P

c.755T>C

1 paper

NM_018979.4

p.T244_V245insFs

c.732_733insG

1 paper

NM_018979.4

p.T244A

c.730A>G

1 paper

NM_018979.4

p.T243A

c.727A>G

1 paper

NM_018979.4

p.T241P

c.721A>C

2 papers

NM_018979.4

p.K233R

c.698A>G

14 papers

NM_018979.4

p.K233M

c.698A>T

1 paper

NM_018979.4

p.R229K

c.686G>A

1 paper

NM_018979.4

p.I225N

c.674T>A

1 paper

NM_018979.4

p.I225F

c.673A>T

1 paper

NM_018979.4

p.L221L

c.663C>T