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

3 papers

NM_181840.1

p.F139fs

c.415_416fs

Surrounding Variants

7 papers

NM_181840.1

p.F139fs

c.415_416fs

6 papers

NM_181840.1

p.L138_F139delFs

c.414_415delCT

1 paper

NM_181840.1

p.P142A

c.424C>G

1 paper

NM_181840.1

p.V147F

c.439G>T

1 paper

NM_181840.1

p.T149A

c.445A>G

1 paper

NM_181840.1

p.P124P

c.372C>T

1 paper

NM_181840.1

p.I154V

c.460A>G

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.Y121H

c.361T>C

4 papers

NM_181840.1

p.Y121fs

c.361_362fs

2 papers

NM_181840.1

p.Y121fs

c.361_362fs