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

25 papers

NM_000525.4

p.K170R

c.509A>G

Surrounding Variants

18 papers

NM_000525.4

p.K170T

c.509A>C

28 papers

NM_000525.4

p.K170N

c.510G>T

28 papers

NM_000525.4

p.K170N

c.510G>C

2 papers

NM_000525.4

p.K170E

c.508A>G

1 paper

NM_000525.4

p.K170Q

c.508A>C

1 paper

NM_000525.4

p.T171S

c.511A>T

5 papers

NM_000525.4

p.T171A

c.511A>G

2 papers

NM_000525.4

p.M169T

c.506T>C

1 paper

NM_000525.4

p.T171S

c.512C>G

1 paper

NM_000525.4

p.T171N

c.512C>A

1 paper

NM_000525.4

p.M169insFs

c.505_506insG

2 papers

NM_000525.4

p.F168L

c.504C>G