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.A28A

c.84C>A

Surrounding Variants

5 papers

NM_000525.4

p.A28V

c.83C>T

1 paper

NM_000525.4

p.R29C

c.85C>T

1 paper

NM_000525.4

p.R29P

c.86G>C

2 papers

NM_000525.4

p.R29H

c.86G>A

1 paper

NM_000525.4

p.R29delFs

c.85delG

1 paper

NM_000525.4

p.R27_A28insFs

c.81_82insA

1 paper

NM_000525.4

p.R29fs

c.85_86fs

9 papers

NM_000525.4

p.R27H

c.80G>A

4 papers

NM_000525.4

p.R27C

c.79C>T

1 paper

NM_000525.4

p.Q30delFs

c.88delG

1 paper

NM_000525.4

p.Q30fs

c.88_89fs

2 papers

NM_000525.4

p.Q30H

c.90G>C