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.M181K

c.542T>A

Surrounding Variants

1 paper

NM_001194958.2

p.I177I

c.531T>A

11 papers

NM_001194958.2

p.A185V

c.554C>T

8 papers

NM_001194958.2

p.D173N

c.517G>A

1 paper

NM_001194958.2

p.R190W

c.568C>T

8 papers

NM_001194958.2

p.Q192H

c.576G>C

9 papers

NM_001194958.2

p.Q192H

c.576G>T

1 paper

NM_001194958.2

p.T193M

c.578C>T

1 paper

NM_001194958.2

p.G169R

c.505G>C

4 papers

NM_001194958.2

p.V168M

c.502G>A

1 paper

NM_001194958.2

p.L195L

c.585G>A

4 papers

NM_001194958.2

p.A200P

c.598G>C

5 papers

NM_001194958.2

p.R205H

c.614G>A