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

7 papers

NM_181840.1

p.W101R

c.301T>C

Surrounding Variants

7 papers

NM_181840.1

p.W101R

c.301T>A

1 paper

NM_181840.1

p.S106L

c.317C>T

1 paper

NM_181840.1

p.F108I

c.322T>A

27 papers

NM_181840.1

p.C110R

c.328T>C

1 paper

NM_181840.1

p.T112M

c.335C>T

1 paper

NM_181840.1

p.Q88_S102del15

c.262_305del45

1 paper

NM_181840.1

p.T116S

c.346A>T

1 paper

NM_181840.1

p.T116S

c.347C>G

1 paper

NM_181840.1

p.G85G

c.255G>C

1 paper

NM_181840.1

p.D78delFs

c.234delC

1 paper

NM_181840.1

p.D78fs

c.232_233fs

1 paper

NM_181840.1

p.S72R

c.216T>A