Varaico: Literature-Extracted Genetic Variants

Gene:WNK1
Variant:p.S2T

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
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.S2T
c.4T>A
Surrounding Variants
1 paper
NM_018979.4
p.S2ins0
c.4_6dupTCT
1 paper
NM_018979.4
p.M1T
c.2T>C
1 paper
NM_018979.4
p.S2S
c.6T>G
1 paper
NM_018979.4
p.M1insFs
c.2dupT
1 paper
NM_018979.4
p.M1L
c.1A>C
1 paper
NM_018979.4
p.M1L
c.1A>T
2 papers
NM_018979.4
p.G3insFs
c.7_8insT
2 papers
NM_018979.4
p.G3insFs
c.7_8insTT
1 paper
NM_018979.4
p.G4C
c.10G>T
1 paper
NM_018979.4
p.A5T
c.13G>A
1 paper
NM_018979.4
p.A5A
c.15C>A
1 paper
NM_018979.4
p.A6delFs
c.17delC
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