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

5 papers

NM_001194958.2

p.E333del1

c.997_998delGAG

Surrounding Variants

1 paper

NM_001194958.2

p.Y338F

c.1013A>T

2 papers

NM_001194958.2

p.I340T

c.1019T>C

3 papers

NM_001194958.2

p.S343L

c.1028C>T

1 paper

NM_001194958.2

p.H346R

c.1037A>G

1 paper

NM_001194958.2

p.S314N

c.941G>A

1 paper

NM_001194958.2

p.V351V

c.1053G>A

10 papers

NM_001194958.2

p.T354M

c.1061C>T

1 paper

NM_001194958.2

p.T309N

c.926C>A

2 papers

NM_001194958.2

p.T309I

c.926C>T

2 papers

NM_001194958.2

p.K360T

c.1079A>C

1 paper

NM_001194958.2

p.V303M

c.907G>A

3 papers

NM_001194958.2

p.M302I

c.906G>A