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

5 papers

NM_000525.4

p.V151M

c.451G>A

Surrounding Variants

1 paper

NM_000525.4

p.I150I

c.450C>T

1 paper

NM_000525.4

p.L149L

c.447C>G

1 paper

NM_000525.4

p.Q152R

c.455A>G

1 paper

NM_000525.4

p.I148S

c.443T>G

1 paper

NM_000525.4

p.I154V

c.460A>G

1 paper

NM_000525.4

p.I154S

c.461T>G

18 papers

NM_000525.4

p.L147P

c.440T>C

1 paper

NM_000525.4

p.V155L

c.463G>T

1 paper

NM_000525.4

p.V155L

c.463G>C

3 papers

NM_000525.4

p.V155M

c.463G>A

1 paper

NM_000525.4

p.L147V

c.439C>G

1 paper

NM_000525.4

p.I146I

c.438C>A