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

Selected Variant

2 papers

NM_004983.3

p.E364G

c.1091A>G

Surrounding Variants

1 paper

NM_004983.3

p.A366G

c.1097C>G

4 papers

NM_004983.3

p.A366V

c.1097C>T

5 papers

NM_004983.3

p.E368G

c.1103A>G

1 paper

NM_004983.3

p.A370G

c.1109C>G

1 paper

NM_004983.3

p.F326S

c.977T>C

1 paper

NM_004983.3

p.M285R

c.854T>G

1 paper

NM_004983.3

p.G284R

c.850G>A

1 paper

NM_004983.3

p.G284R

c.850G>C

1 paper

NM_004983.3

p.V274I

c.820G>A

1 paper

NM_004983.3

p.A253T

c.757G>A

1 paper

NM_004983.3

p.D252E

c.756C>A

1 paper

NM_004983.3

p.D252E

c.756C>G