Varaico: Literature-Extracted Genetic Variants

WNK2

176 papers

RefSeq Summary

The protein encoded by this gene is a cytoplasmic serine-threonine kinase that belongs to the protein kinase superfamily. The protein plays an important role in the regulation of electrolyte homeostas...

Pfam Domains

Pkinaseaa 195–453UCSCProtein kinase domain

OSR1_Caa 474–537UCSCOxidative-stress-responsive kinase 1 C-terminal domain

CCTL2_WNKaa 1186–1263UCSCWNK CCTL2 domain

Gene Aliases

HGNC Name

WNK lysine deficient protein kinase 2

HGNC Previous Symbols

SDCCAG43; PRKWNK2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006648.4

p.P645P

c.1935G>A

Surrounding Variants

1 paper

NM_006648.4

p.P645S

c.1933C>T

1 paper

NM_006648.4

p.P647L

c.1940C>T

1 paper

NM_006648.4

p.A648S

c.1942G>T

1 paper

NM_006648.4

p.D642E

c.1926C>A

1 paper

NM_006648.4

p.D642E

c.1926C>G

1 paper

NM_006648.4

p.Q649fs

c.1945_1946fs

1 paper

NM_006648.4

p.Q649_C650delFs

c.1947_1948delGT

1 paper

NM_006648.4

p.D642N

c.1924G>A

1 paper

NM_006648.4

p.V651M

c.1951G>A

1 paper

NM_006648.4

p.S639S

c.1917C>T

1 paper

NM_006648.4

p.C652R

c.1954T>C

1 paper

NM_006648.4

p.P655T

c.1963C>A