Varaico: Literature-Extracted Genetic Variants

Gene:WNK1
Variant:p.A377S

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.A377S
c.1129G>T
Surrounding Variants
3 papers
NM_018979.4
p.S378A
c.1132T>G
6 papers
NM_018979.4
p.F379insFs
c.1135_1136insT
1 paper
NM_018979.4
p.K375*
c.1123A>T
1 paper
NM_018979.4
p.A372T
c.1114G>A
1 paper
NM_018979.4
p.A372P
c.1114G>C
1 paper
NM_018979.4
p.A372S
c.1114G>T
7 papers
NM_018979.4
p.L369F
c.1105C>T
17 papers
NM_018979.4
p.D368A
c.1103A>C
1 paper
NM_018979.4
p.G385Splc
c.1153+2T>C
1 paper
NM_018979.4
p.D368N
c.1102G>A
4 papers
NM_018979.4
p.S363_V364insFs
c.1089_1090insT
1 paper
NM_018979.4
p.S363P
c.1087T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."