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

6 papers

NM_001194958.2

p.V297I

c.889G>A

Surrounding Variants

1 paper

NM_001194958.2

p.E294D

c.882G>C

1 paper

NM_001194958.2

p.D291D

c.873C>T

3 papers

NM_001194958.2

p.M302I

c.906G>A

3 papers

NM_001194958.2

p.M302I

c.906G>C

4 papers

NM_001194958.2

p.M302I

c.906G>T

1 paper

NM_001194958.2

p.V303M

c.907G>A

5 papers

NM_001194958.2

p.T290M

c.869C>T

4 papers

NM_001194958.2

p.E289Q

c.865G>C

1 paper

NM_001194958.2

p.R285W

c.853C>T

1 paper

NM_001194958.2

p.T309N

c.926C>A

2 papers

NM_001194958.2

p.T309I

c.926C>T

1 paper

NM_001194958.2

p.I283V

c.847A>G