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.A87G

c.260C>G

Surrounding Variants

2 papers

NM_000525.4

p.A87T

c.259G>A

1 paper

NM_000525.4

p.F86F

c.258C>T

1 paper

NM_000525.4

p.F86C

c.257T>G

1 paper

NM_000525.4

p.F86S

c.257T>C

1 paper

NM_000525.4

p.M88I

c.264G>T

1 paper

NM_000525.4

p.M88I

c.264G>C

1 paper

NM_000525.4

p.M88I

c.264G>A

1 paper

NM_000525.4

p.A89delFs

c.267delG

1 paper

NM_000525.4

p.L84R

c.251T>G

1 paper

NM_000525.4

p.W91G

c.271T>G

17 papers

NM_000525.4

p.W91R

c.271T>C

17 papers

NM_000525.4

p.W91R

c.271T>A