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.Y163*

c.489T>A

Surrounding Variants

1 paper

NM_181840.1

p.Y163*

c.489T>G

2 papers

NM_181840.1

p.Y163D

c.487T>G

1 paper

NM_181840.1

p.S162A

c.484T>G

1 paper

NM_181840.1

p.T161A

c.481A>G

2 papers

NM_181840.1

p.R167*

c.499C>T

1 paper

NM_181840.1

p.K168N

c.504A>C

1 paper

NM_181840.1

p.K168N

c.504A>T

1 paper

NM_181840.1

p.I154V

c.460A>G

1 paper

NM_181840.1

p.S178T

c.532T>A

1 paper

NM_181840.1

p.S178A

c.532T>G

1 paper

NM_181840.1

p.T149A

c.445A>G

1 paper

NM_181840.1

p.V147F

c.439G>T