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

8 papers

NM_001194958.2

p.R39Q

c.116G>A

Surrounding Variants

9 papers

NM_001194958.2

p.R40H

c.119G>A

3 papers

NM_001194958.2

p.V36L

c.106G>C

4 papers

NM_001194958.2

p.V36L

c.106G>T

4 papers

NM_001194958.2

p.R43C

c.127C>T

5 papers

NM_001194958.2

p.R43H

c.128G>A

1 paper

NM_001194958.2

p.G34S

c.100G>A

1 paper

NM_001194958.2

p.N29K

c.87C>A

1 paper

NM_001194958.2

p.N29K

c.87C>G

1 paper

NM_001194958.2

p.K49K

c.147G>A

6 papers

NM_001194958.2

p.A56E

c.167C>A

3 papers

NM_001194958.2

p.L15S

c.44T>C

1 paper

NM_001194958.2

p.R66S

c.196C>A