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

1–12 of 122 variants

14 papers

NM_001194958.2

p.E139K

c.415G>A

13 papers

NM_001194958.2

p.G145S

c.433G>A

11 papers

NM_001194958.2

p.A185V

c.554C>T

11 papers

NM_001194958.2

p.L211F

c.631C>T

11 papers

NM_001194958.2

p.I249V

c.745A>G

11 papers

NM_001194958.2

p.R399*

c.1195C>T

10 papers

NM_001194958.2

p.T354M

c.1061C>T

9 papers

NM_001194958.2

p.R40H

c.119G>A

9 papers

NM_001194958.2

p.T142N

c.425C>A

9 papers

NM_001194958.2

p.Q192H

c.576G>T

9 papers

NM_001194958.2

p.Q407*

c.1219C>T

8 papers

NM_001194958.2

p.R39Q

c.116G>A