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

1 paper

NM_004983.3

p.S9P

c.25T>C

Surrounding Variants

1 paper

NM_004983.3

p.A2V

c.5C>T

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

1 paper

NM_004983.3

p.T46M

c.137C>T

4 papers

NM_004983.3

p.V53E

c.158T>A

1 paper

NM_004983.3

p.Q56K

c.166C>A

1 paper

NM_004983.3

p.L59F

c.175C>T

1 paper

NM_004983.3

p.S60N

c.179G>A

1 paper

NM_004983.3

p.L61del1

c.181_182delCTG

1 paper

NM_004983.3

p.L61_L62del1

c.182_184delTGT