Varaico: Literature-Extracted Genetic Variants

KCNJ11

1,240 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 1–87UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 94–267UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 11

HGNC Alias Symbols

Kir6.2; BIR

Papers

RefSeq ID

Protein change

DNA change

1–12 of 839 variants

194 papers

NM_000525.4

p.R201H

c.602G>A

177 papers

NM_000525.4

p.V59M

c.175G>A

139 papers

NM_000525.4

p.R201C

c.601C>T

73 papers

NM_000525.4

p.Q52R

c.155A>G

73 papers

NM_000525.4

p.G334D

c.1001G>A

61 papers

NM_000525.4

p.E227K

c.679G>A

60 papers

NM_000525.4

p.V59G

c.176T>G

60 papers

NM_000525.4

p.I296L

c.886A>C

59 papers

NM_000525.4

p.K23E

c.67A>G

53 papers

NM_000525.4

p.R50Q

c.149G>A

52 papers

NM_000525.4

p.G53D

c.158G>A

50 papers

NM_000525.4

p.C42R

c.124T>C