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.C75Y

c.224G>A

Surrounding Variants

5 papers

NM_001194958.2

p.M71I

c.213G>A

4 papers

NM_001194958.2

p.M71I

c.213G>C

4 papers

NM_001194958.2

p.M71I

c.213G>T

2 papers

NM_001194958.2

p.R81C

c.241C>T

1 paper

NM_001194958.2

p.R81P

c.242G>C

1 paper

NM_001194958.2

p.R66S

c.196C>A

1 paper

NM_001194958.2

p.I86I

c.258C>A

6 papers

NM_001194958.2

p.A56E

c.167C>A

1 paper

NM_001194958.2

p.G99G

c.297C>T

4 papers

NM_001194958.2

p.V100I

c.298G>A

1 paper

NM_001194958.2

p.K49K

c.147G>A

5 papers

NM_001194958.2

p.R43H

c.128G>A