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.A94V

c.281C>T

Surrounding Variants

1 paper

NM_000525.4

p.A94P

c.280G>C

1 paper

NM_000525.4

p.F95S

c.284T>C

1 paper

NM_000525.4

p.F95F

c.285C>T

1 paper

NM_000525.4

p.I93fs

c.277_278fs

1 paper

NM_000525.4

p.I93insFs

c.277_278ins4

6 papers

NM_000525.4

p.A96T

c.286G>A

1 paper

NM_000525.4

p.C81_F95del15

c.241_284del45

5 papers

NM_000525.4

p.A96V

c.287C>T

1 paper

NM_000525.4

p.A96Fs

c.288delinsTGFs

5 papers

NM_000525.4

p.W91*

c.273G>A

1 paper

NM_000525.4

p.H97Y

c.289C>T

5 papers

NM_000525.4

p.W91*

c.272G>A