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.A107A

c.321T>C

Surrounding Variants

1 paper

NM_000525.4

p.E108*

c.322G>T

1 paper

NM_000525.4

p.A107T

c.319G>A

1 paper

NM_000525.4

p.E108V

c.323A>T

1 paper

NM_000525.4

p.E108A

c.323A>C

1 paper

NM_000525.4

p.E108D

c.324G>C

1 paper

NM_000525.4

p.T106I

c.317C>T

1 paper

NM_000525.4

p.P109T

c.325C>A

1 paper

NM_000525.4

p.G105G

c.315C>A

1 paper

NM_000525.4

p.E104D

c.312G>C

1 paper

NM_000525.4

p.V111L

c.331G>C

5 papers

NM_000525.4

p.V111I

c.331G>A

1 paper

NM_000525.4

p.E104A

c.311A>C