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

14 papers

NM_181840.1

p.A34V

c.101C>T

Surrounding Variants

1 paper

NM_181840.1

p.L30_A34del5

c.88_101del15

1 paper

NM_181840.1

p.G23D

c.68G>A

1 paper

NM_181840.1

p.L20V

c.58C>G

1 paper

NM_181840.1

p.L50Q

c.149T>A

1 paper

NM_181840.1

p.P14L

c.41C>T

1 paper

NM_181840.1

p.C12F

c.35G>T

1 paper

NM_181840.1

p.R10_C12delFs

c.30_34del5

1 paper

NM_181840.1

p.F58Y

c.173T>A

9 papers

NM_181840.1

p.R10G

c.28A>G

1 paper

NM_181840.1

p.H6delFs

c.18delC

1 paper

NM_181840.1

p.H6fs

c.16_17fs

1 paper

NM_181840.1

p.S72R

c.216T>A