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.F318Y

c.953T>A

Surrounding Variants

1 paper

NM_181840.1

p.T322A

c.964A>G

1 paper

NM_181840.1

p.T323S

c.967A>T

1 paper

NM_181840.1

p.T323S

c.968C>G

1 paper

NM_181840.1

p.D328G

c.983A>G

1 paper

NM_181840.1

p.E305K

c.913G>A

1 paper

NM_181840.1

p.F336S

c.1007T>C

1 paper

NM_181840.1

p.L288F

c.862C>T

1 paper

NM_181840.1

p.A287A

c.861C>A

1 paper

NM_181840.1

p.E349A

c.1046A>C

1 paper

NM_181840.1

p.A287D

c.860C>A

1 paper

NM_181840.1

p.I353N

c.1058T>A

1 paper

NM_181840.1

p.K356E

c.1066A>G