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.Y121H

c.361T>C

Surrounding Variants

4 papers

NM_181840.1

p.Y121fs

c.361_362fs

2 papers

NM_181840.1

p.Y121fs

c.361_362fs

6 papers

NM_181840.1

p.Y121insFs

c.361dupT

1 paper

NM_181840.1

p.Y121*

c.363C>A

1 paper

NM_181840.1

p.Y121*

c.363C>G

1 paper

NM_181840.1

p.G120fs

c.358_359fs

1 paper

NM_181840.1

p.G118Splc

c.353-1G>T

1 paper

NM_181840.1

p.P124P

c.372C>T

6 papers

NM_181840.1

p.L138_F139delFs

c.414_415delCT

3 papers

NM_181840.1

p.F139fs

c.415_416fs

7 papers

NM_181840.1

p.F139fs

c.415_416fs

1 paper

NM_181840.1

p.P142A

c.424C>G