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

1–12 of 87 variants

27 papers

NM_181840.1

p.C110R

c.328T>C

14 papers

NM_181840.1

p.A34V

c.101C>T

9 papers

NM_181840.1

p.R10G

c.28A>G

9 papers

NM_181840.1

p.S231P

c.691T>C

7 papers

NM_181840.1

p.W101R

c.301T>A

7 papers

NM_181840.1

p.W101R

c.301T>C

7 papers

NM_181840.1

p.F139fs

c.415_416fs

7 papers

NM_181840.1

p.A233V

c.698C>T

6 papers

NM_181840.1

p.Y121insFs

c.361dupT

6 papers

NM_181840.1

p.L138_F139delFs

c.414_415delCT

4 papers

NM_181840.1

p.Y121fs

c.361_362fs

3 papers

NM_181840.1

p.F139fs

c.415_416fs