Varaico: Literature-Extracted Genetic Variants

KCNJ15

80 papers

RefSeq Summary

Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rec...

Pfam Domains

IRKaa 30–171UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 178–349UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 15

HGNC Alias Symbols

Kir4.2; Kir1.3; IRKK

Papers

RefSeq ID

Protein change

DNA change

1–12 of 73 variants

3 papers

NM_170736.3

p.R28C

c.82C>T

3 papers

NM_170736.3

p.T77I

c.230C>T

3 papers

NM_170736.3

p.G98D

c.293G>A

2 papers

NM_170736.3

p.I6V

c.16A>G

2 papers

NM_170736.3

p.V29I

c.85G>A

2 papers

NM_170736.3

p.K110N

c.330A>C

2 papers

NM_170736.3

p.K110N

c.330A>T

2 papers

NM_170736.3

p.L155F

c.465G>C

2 papers

NM_170736.3

p.L155F

c.465G>T

2 papers

NM_170736.3

p.R170T

c.509G>C

1 paper

NM_170736.3

p.N25delFs

c.74delA

1 paper

NM_170736.3

p.N25fs

c.73_74fs