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

2 papers

NM_000525.4

p.R195C

c.583C>T

Surrounding Variants

1 paper

NM_000525.4

p.R195L

c.584G>T

1 paper

NM_000525.4

p.R195insFs

c.584_585insA

7 papers

NM_000525.4

p.R195H

c.584G>A

1 paper

NM_000525.4

p.L196H

c.587T>A

1 paper

NM_000525.4

p.H193H

c.579C>T

1 paper

NM_000525.4

p.C197S

c.589T>A

1 paper

NM_000525.4

p.H193D

c.577C>G

1 paper

NM_000525.4

p.H193N

c.577C>A

1 paper

NM_000525.4

p.C197S

c.590G>C

9 papers

NM_000525.4

p.R192H

c.575G>A

3 papers

NM_000525.4

p.R192C

c.574C>T

1 paper

NM_000525.4

p.R192S

c.574C>A