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

4 papers

NM_000525.4

p.I296V

c.886A>G

Surrounding Variants

60 papers

NM_000525.4

p.I296L

c.886A>C

2 papers

NM_000525.4

p.G295D

c.884G>A

2 papers

NM_000525.4

p.G295S

c.883G>A

1 paper

NM_000525.4

p.T297N

c.890C>A

14 papers

NM_000525.4

p.T294M

c.881C>T

1 paper

NM_000525.4

p.T298S

c.893C>G

1 paper

NM_000525.4

p.T293T

c.879C>G

2 papers

NM_000525.4

p.T298T

c.894C>T

1 paper

NM_000525.4

p.T293I

c.878C>T

3 papers

NM_000525.4

p.T293S

c.878C>G

15 papers

NM_000525.4

p.T293N

c.878C>A

2 papers

NM_000525.4

p.Q299*

c.895C>T