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.I284I

c.852C>A

Surrounding Variants

4 papers

NM_000525.4

p.V285I

c.853G>A

4 papers

NM_000525.4

p.I284del1

c.850_851delGAT

2 papers

NM_000525.4

p.I283M

c.849C>G

1 paper

NM_000525.4

p.L287P

c.860T>C

19 papers

NM_000525.4

p.E282K

c.844G>A

6 papers

NM_000525.4

p.L281L

c.843C>T

2 papers

NM_000525.4

p.E288*

c.862G>T

2 papers

NM_000525.4

p.E288K

c.862G>A

3 papers

NM_000525.4

p.L281F

c.841C>T

1 paper

NM_000525.4

p.E288A

c.863A>C

3 papers

NM_000525.4

p.G289V

c.866G>T

2 papers

NM_000525.4

p.G289A

c.866G>C