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.S327Y

c.980C>A

Surrounding Variants

2 papers

NM_000525.4

p.V328M

c.982G>A

1 paper

NM_000525.4

p.D329H

c.985G>C

1 paper

NM_000525.4

p.D329N

c.985G>A

1 paper

NM_000525.4

p.R325H

c.974G>A

1 paper

NM_000525.4

p.D329A

c.986A>C

3 papers

NM_000525.4

p.R325S

c.973C>A

2 papers

NM_000525.4

p.Y330D

c.988T>G

5 papers

NM_000525.4

p.Y330H

c.988T>C

2 papers

NM_000525.4

p.Y330N

c.988T>A

1 paper

NM_000525.4

p.Y330F

c.989A>T

49 papers

NM_000525.4

p.Y330C

c.989A>G

16 papers

NM_000525.4

p.Y330S

c.989A>C