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.S385R

c.1155C>A

Surrounding Variants

1 paper

NM_001194958.2

p.S385R

c.1155C>G

1 paper

NM_001194958.2

p.R386C

c.1156C>T

1 paper

NM_001194958.2

p.S385R

c.1153A>C

2 papers

NM_001194958.2

p.E388K

c.1162G>A

1 paper

NM_001194958.2

p.E380K

c.1138G>A

1 paper

NM_001194958.2

p.N379K

c.1137C>A

1 paper

NM_001194958.2

p.N379K

c.1137C>G

5 papers

NM_001194958.2

p.E378K

c.1132G>A

2 papers

NM_001194958.2

p.G394R

c.1180G>A

2 papers

NM_001194958.2

p.G394R

c.1180G>C

11 papers

NM_001194958.2

p.R399*

c.1195C>T

1 paper

NM_001194958.2

p.S371R

c.1113T>A