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.A177T

c.529G>A

Surrounding Variants

1 paper

NM_004983.3

p.T170M

c.509C>T

1 paper

NM_004983.3

p.I161_S162del1

c.483_485delCTC

1 paper

NM_004983.3

p.K160N

c.480G>C

1 paper

NM_004983.3

p.K160N

c.480G>T

1 paper

NM_004983.3

p.V159delFs

c.476_477delTC

1 paper

NM_004983.3

p.V159fs

c.475_476fs

1 paper

NM_004983.3

p.F158insFs

c.473_474insGA

1 paper

NM_004983.3

p.F158fs

c.472_473fs

1 paper

NM_004983.3

p.M157I

c.471G>A

1 paper

NM_004983.3

p.M157I

c.471G>C

1 paper

NM_004983.3

p.M157I

c.471G>T

1 paper

NM_004983.3

p.C156_M157ins1

c.468_469insGAG