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

1 paper

NM_001194958.2

p.R219P

c.656G>C

Surrounding Variants

1 paper

NM_001194958.2

p.R219H

c.656G>A

1 paper

NM_001194958.2

p.R219C

c.655C>T

1 paper

NM_001194958.2

p.L218L

c.654G>C

11 papers

NM_001194958.2

p.L211F

c.631C>T

1 paper

NM_001194958.2

p.A230T

c.688G>A

1 paper

NM_001194958.2

p.D206D

c.618C>T

1 paper

NM_001194958.2

p.L232F

c.694C>T

5 papers

NM_001194958.2

p.R205H

c.614G>A

1 paper

NM_001194958.2

p.R236W

c.706C>T

4 papers

NM_001194958.2

p.A200P

c.598G>C

7 papers

NM_001194958.2

p.E239K

c.715G>A

1 paper

NM_001194958.2

p.G241G

c.723C>T