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.R255Q

c.764G>A

Surrounding Variants

1 paper

NM_018979.4

p.K259M

c.776A>T

1 paper

NM_018979.4

p.S260_E261insFs

c.780_781insA

1 paper

NM_018979.4

p.R262W

c.784A>T

2 papers

NM_018979.4

p.R262R

c.786G>A

1 paper

NM_018979.4

p.R264*

c.790A>T

1 paper

NM_018979.4

p.E267*

c.799G>T

1 paper

NM_018979.4

p.E268Q

c.802G>C

1 paper

NM_018979.4

p.A269T

c.805G>A

1 paper

NM_018979.4

p.M271_Q276del0

c.811_828del18

1 paper

NM_018979.4

p.G274A

c.821G>C

1 paper

NM_018979.4

p.L275P

c.824T>C

2 papers

NM_018979.4

p.Q276*

c.826C>T