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.M199R

c.596T>G

Surrounding Variants

1 paper

NM_000525.4

p.M199delins

c.595_596delinsGG

139 papers

NM_000525.4

p.R201C

c.601C>T

6 papers

NM_000525.4

p.R201G

c.601C>G

9 papers

NM_000525.4

p.R201S

c.601C>A

34 papers

NM_000525.4

p.R201L

c.602G>T

2 papers

NM_000525.4

p.R201P

c.602G>C

1 paper

NM_000525.4

p.C197S

c.590G>C

194 papers

NM_000525.4

p.R201H

c.602G>A

1 paper

NM_000525.4

p.C197S

c.589T>A

1 paper

NM_000525.4

p.L196H

c.587T>A

1 paper

NM_000525.4

p.R195L

c.584G>T

1 paper

NM_000525.4

p.R195insFs

c.584_585insA