Varaico: Literature-Extracted Genetic Variants

KCNJ18

101 papers

RefSeq Summary

This gene encodes a member of the inwardly rectifying potassium channel family. Transcription of this locus is regulated by thyroid hormone, and the encoded protein plays a role in resting membrane po...

Pfam Domains

IRK_Naa 2–46UCSCInward rectifier potassium channel N-terminal

IRKaa 47–187UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 194–367UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 18

HGNC Alias Symbols

KIR2.6; TTPP2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

11 papers

NM_001194958.2

p.I249V

c.745A>G

Surrounding Variants

4 papers

NM_001194958.2

p.D252N

c.754G>A

3 papers

NM_001194958.2

p.P245L

c.734C>T

2 papers

NM_001194958.2

p.V253insFs

c.758dupT

1 paper

NM_001194958.2

p.V253_G254insFs

c.759_760insT

1 paper

NM_001194958.2

p.F255fs

c.763_764fs

1 paper

NM_001194958.2

p.G241G

c.723C>T

1 paper

NM_001194958.2

p.K257E

c.769A>G

7 papers

NM_001194958.2

p.E239K

c.715G>A

8 papers

NM_001194958.2

p.R261H

c.782G>A

1 paper

NM_001194958.2

p.R236W

c.706C>T

7 papers

NM_001194958.2

p.I262S

c.785T>G

1 paper

NM_001194958.2

p.L232F

c.694C>T