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.E140delFs

c.419delT

Surrounding Variants

2 papers

NM_000525.4

p.E140K

c.418G>A

1 paper

NM_000525.4

p.E141E

c.423G>A

1 paper

NM_000525.4

p.C142S

c.424T>A

2 papers

NM_000525.4

p.T139I

c.416C>T

1 paper

NM_000525.4

p.C142Y

c.425G>A

1 paper

NM_000525.4

p.T139P

c.415A>C

3 papers

NM_000525.4

p.V138E

c.413T>A

1 paper

NM_000525.4

p.V138L

c.412G>T

1 paper

NM_000525.4

p.V138L

c.412G>C

1 paper

NM_000525.4

p.L144P

c.431T>C

4 papers

NM_000525.4

p.R136fs

c.406_407fs

9 papers

NM_000525.4

p.R136L

c.407G>T