Varaico: Literature-Extracted Genetic Variants

Gene:WNK1
Variant:p.S1602del1

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_014823.3
p.S1602del1
c.4804_4805delTCA
Surrounding Variants
1 paper
NM_018979.4
p.T1848_S1850del0
c.5542_5550del9
1 paper
NM_001184985.2
p.P2104A
c.6310C>G
1 paper
NM_018979.4
p.E1842ins1
c.5524_5525insGAA
1 paper
NM_018979.4
p.D1867D
c.5601C>T
1 paper
NM_018979.4
p.D1879N
c.5635G>A
1 paper
NM_018979.4
p.A1880T
c.5638G>A
1 paper
NM_018979.4
p.S1918F
c.5753C>T
1 paper
NM_018979.4
p.S1931*
c.5792C>A
1 paper
NM_018979.4
p.S1931*
c.5792C>G
1 paper
NM_018979.4
p.G1944_V1955delFs
c.5832_5865del34
5 papers
NM_018979.4
p.R1945C
c.5833C>T
NM_001184985.2
p.R2205C
c.6613C>T
1 paper
NM_018979.4
p.T1950I
c.5849C>T
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