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

2 papers

NM_000525.4

p.D58E

c.174C>G

Surrounding Variants

2 papers

NM_000525.4

p.D58E

c.174C>A

177 papers

NM_000525.4

p.V59M

c.175G>A

1 paper

NM_000525.4

p.D58V

c.173A>T

1 paper

NM_000525.4

p.D58G

c.173A>G

2 papers

NM_000525.4

p.D58A

c.173A>C

60 papers

NM_000525.4

p.V59G

c.176T>G

23 papers

NM_000525.4

p.V59A

c.176T>C

1 paper

NM_000525.4

p.D58N

c.172G>A

1 paper

NM_000525.4

p.F60_T61insAGC

c.178_182ins9

1 paper

NM_000525.4

p.F60L

c.178T>C

3 papers

NM_000525.4

p.F60S

c.179T>C

9 papers

NM_000525.4

p.F60Y

c.179T>A