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.H259delFs

c.775delG

Surrounding Variants

18 papers

NM_000525.4

p.H259R

c.776A>G

2 papers

NM_000525.4

p.H259Q

c.777T>G

2 papers

NM_000525.4

p.H259Q

c.777T>A

1 paper

NM_000525.4

p.H259Y

c.775C>T

1 paper

NM_000525.4

p.Y258*

c.774C>G

1 paper

NM_000525.4

p.Y258*

c.774C>A

1 paper

NM_000525.4

p.V252_I257del0

c.756_770del15

1 paper

NM_000525.4

p.D262E

c.786T>G

1 paper

NM_000525.4

p.D262D

c.786T>C

1 paper

NM_000525.4

p.D262E

c.786T>A

1 paper

NM_000525.4

p.I256V

c.766A>G

8 papers

NM_000525.4

p.P254L

c.761C>T