Varaico: Literature-Extracted Genetic Variants

Gene:WNK1
Variant:p.G1732G

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.G1732G
c.5196G>A
Surrounding Variants
1 paper
NM_018979.4
p.S1743P
c.5227T>C
1 paper
NM_018979.4
p.N1715S
c.5144A>G
1 paper
NM_018979.4
p.K1753R
c.5258A>G
1 paper
NM_018979.4
p.T1704A
c.5110A>G
1 paper
NM_018979.4
p.S1700R
c.5098A>C
1 paper
NM_213655.5
p.I1944_L1955delFs
c.5832_5865del34
1 paper
NM_018979.4
p.S1681P
c.5041T>C
1 paper
NM_018979.4
p.A1646G
c.4937C>G
1 paper
NM_018979.4
p.P1644L
c.4931C>T
1 paper
NM_018979.4
p.T1616A
c.4846A>G
1 paper
NM_018979.4
p.T1591_P1592del2
c.4771_4775del6
2 papers
NM_018979.4
p.A1546_P1547insC
c.4636_4640ins3
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