Varaico: Literature-Extracted Genetic Variants

KCNJ9

74 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 25–164UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 171–343UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 9

HGNC Alias Symbols

Kir3.3; GIRK3

Papers

RefSeq ID

Protein change

DNA change

1–12 of 61 variants

5 papers

NM_004983.3

p.E368G

c.1103A>G

4 papers

NM_004983.3

p.V53E

c.158T>A

4 papers

NM_004983.3

p.A366V

c.1097C>T

2 papers

NM_004983.3

p.A177T

c.529G>A

2 papers

NM_004983.3

p.R238H

c.713G>A

2 papers

NM_004983.3

p.E364G

c.1091A>G

1 paper

NM_004983.3

p.A2V

c.5C>T

1 paper

NM_004983.3

p.S9P

c.25T>C

1 paper

NM_004983.3

p.R19P

c.56G>C

1 paper

NM_004983.3

p.G20S

c.58G>A

1 paper

NM_004983.3

p.V25E

c.74T>A

1 paper

NM_004983.3

p.R43insFs

c.127dupC