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.M209I

c.627G>T

Surrounding Variants

1 paper

NM_000525.4

p.M209I

c.627G>C

1 paper

NM_000525.4

p.M209I

c.627G>A

1 paper

NM_000525.4

p.I210V

c.628A>G

2 papers

NM_000525.4

p.I210T

c.629T>C

1 paper

NM_000525.4

p.S208S

c.624C>T

1 paper

NM_000525.4

p.I210I

c.630C>A

1 paper

NM_000525.4

p.S208T

c.623G>C

1 paper

NM_000525.4

p.S208N

c.623G>A

1 paper

NM_000525.4

p.S212C

c.634A>T

1 paper

NM_000525.4

p.S212I

c.635G>T

1 paper

NM_000525.4

p.S212N

c.635G>A

2 papers

NM_000525.4

p.R206L

c.617G>T