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

14 papers

NM_001194958.2

p.E139K

c.415G>A

Surrounding Variants

3 papers

NM_001194958.2

p.T140M

c.419C>T

9 papers

NM_001194958.2

p.T142N

c.425C>A

1 paper

NM_001194958.2

p.L135L

c.405C>A

1 paper

NM_001194958.2

p.T143delFs

c.428delC

2 papers

NM_001194958.2

p.I144fs

c.430_431fs

13 papers

NM_001194958.2

p.G145S

c.433G>A

1 paper

NM_001194958.2

p.Y146*

c.438C>A

1 paper

NM_001194958.2

p.Y146*

c.438C>G

2 papers

NM_001194958.2

p.Q126*

c.376C>T

2 papers

NM_001194958.2

p.L156P

c.467T>C

3 papers

NM_001194958.2

p.H118R

c.353A>G

1 paper

NM_001194958.2

p.D111delFs

c.333delC