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.T298T

c.894C>T

Surrounding Variants

2 papers

NM_000525.4

p.Q299*

c.895C>T

1 paper

NM_000525.4

p.T298S

c.893C>G

1 paper

NM_000525.4

p.T298del1

c.892_893delGGT

2 papers

NM_000525.4

p.Q299R

c.896A>G

2 papers

NM_000525.4

p.Q299H

c.897G>T

2 papers

NM_000525.4

p.Q299H

c.897G>C

1 paper

NM_000525.4

p.A300T

c.898G>A

1 paper

NM_000525.4

p.T297N

c.890C>A

1 paper

NM_000525.4

p.A300D

c.899C>A

14 papers

NM_000525.4

p.R301C

c.901C>T

3 papers

NM_000525.4

p.R301G

c.901C>G

5 papers

NM_000525.4

p.R301P

c.902G>C