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.R177G

c.529A>G

Surrounding Variants

3 papers

NM_000525.4

p.R177W

c.529A>T

1 paper

NM_000525.4

p.R177K

c.530G>A

4 papers

NM_000525.4

p.R176H

c.527G>A

1 paper

NM_000525.4

p.A178S

c.532G>T

16 papers

NM_000525.4

p.R176C

c.526C>T

2 papers

NM_000525.4

p.H175Q

c.525C>G

2 papers

NM_000525.4

p.H175Q

c.525C>A

1 paper

NM_000525.4

p.A178D

c.533C>A

1 paper

NM_000525.4

p.A178delFs

c.532delC

1 paper

NM_000525.4

p.A178A

c.534T>G

1 paper

NM_000525.4

p.H175R

c.524A>G

1 paper

NM_000525.4

p.A174insFs

c.522dupC