Varaico: Literature-Extracted Genetic Variants

KCNK18

98 papers

RefSeq Summary

Potassium channels play a role in many cellular processes including maintenance of the action potential, muscle contraction, hormone secretion, osmotic regulation, and ion flow. This gene encodes a me...

Pfam Domains

Ion_trans_2aa 87–157UCSCIon channel

Ion_trans_2aa 285–364UCSCIon channel

Gene Aliases

HGNC Name

potassium two pore domain channel subfamily K member 18

HGNC Alias Symbols

K2p18.1; TRESK-2; TRESK2; TRESK; TRIK

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_181840.1

p.L214R

c.641T>G

Surrounding Variants

1 paper

NM_181840.1

p.T216A

c.646A>G

1 paper

NM_181840.1

p.C217delFs

c.650delG

1 paper

NM_181840.1

p.R220C

c.658C>T

1 paper

NM_181840.1

p.A198G

c.593C>G

9 papers

NM_181840.1

p.S231P

c.691T>C

1 paper

NM_181840.1

p.A233E

c.698C>A

7 papers

NM_181840.1

p.A233V

c.698C>T

1 paper

NM_181840.1

p.T239A

c.715A>G

1 paper

NM_181840.1

p.S184A

c.550T>G

1 paper

NM_181840.1

p.S178T

c.532T>A

1 paper

NM_181840.1

p.S178A

c.532T>G

2 papers

NM_181840.1

p.S252L

c.755C>T