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.I167V

c.499A>G

Surrounding Variants

5 papers

NM_000525.4

p.I167F

c.499A>T

19 papers

NM_000525.4

p.I167L

c.499A>C

1 paper

NM_000525.4

p.I167N

c.500T>A

2 papers

NM_000525.4

p.C166W

c.498C>G

1 paper

NM_000525.4

p.C166fs

c.496_497fs

1 paper

NM_000525.4

p.C166*

c.498C>A

20 papers

NM_000525.4

p.C166F

c.497G>T

35 papers

NM_000525.4

p.C166S

c.497G>C

26 papers

NM_000525.4

p.C166Y

c.497G>A

2 papers

NM_000525.4

p.I167M

c.501C>G

1 paper

NM_000525.4

p.F168V

c.502T>G

2 papers

NM_000525.4

p.F168L

c.502T>C