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

Selected Variant

1 paper

NM_000525.4

p.D274G

c.821A>G

Surrounding Variants

1 paper

NM_000525.4

p.D274A

c.821A>C

1 paper

NM_000525.4

p.D274H

c.820G>C

1 paper

NM_000525.4

p.D274N

c.820G>A

1 paper

NM_000525.4

p.D274E

c.822C>G

1 paper

NM_000525.4

p.D274E

c.822C>A

2 papers

NM_000525.4

p.S273S

c.819C>T

1 paper

NM_000525.4

p.S273G

c.817A>G

3 papers

NM_000525.4

p.P272fs

c.814_815fs

1 paper

NM_000525.4

p.A271_P272Fs

c.813_814delinsTCTFs

1 paper

NM_000525.4

p.H277Y

c.829C>T

1 paper

NM_000525.4

p.A271_P272insFs

c.813_814insT

1 paper

NM_000525.4

p.H277Q

c.831C>G