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

37 papers

NM_000525.4

p.L270V

c.808C>G

Surrounding Variants

1 paper

NM_000525.4

p.L270M

c.808C>A

1 paper

NM_000525.4

p.D269E

c.807C>G

4 papers

NM_000525.4

p.D269N

c.805G>A

1 paper

NM_000525.4

p.L267_Y268del1

c.801_803delTAG

1 paper

NM_000525.4

p.Y268F

c.803A>T

1 paper

NM_000525.4

p.A271_P272insFs

c.813_814insT

2 papers

NM_000525.4

p.Y268H

c.802T>C

1 paper

NM_000525.4

p.A271_P272Fs

c.813_814delinsTCTFs

3 papers

NM_000525.4

p.L267L

c.801C>G

3 papers

NM_000525.4

p.P272fs

c.814_815fs

1 paper

NM_000525.4

p.L267V

c.799C>G

1 paper

NM_000525.4

p.S273G

c.817A>G