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

4 papers

NM_000525.4

p.D204E

c.612C>G

Surrounding Variants

4 papers

NM_000525.4

p.D204E

c.612C>A

1 paper

NM_000525.4

p.D204H

c.610G>C

1 paper

NM_000525.4

p.G203D

c.608G>A

10 papers

NM_000525.4

p.R206C

c.616C>T

2 papers

NM_000525.4

p.R206L

c.617G>T

7 papers

NM_000525.4

p.R206H

c.617G>A

34 papers

NM_000525.4

p.R201L

c.602G>T

2 papers

NM_000525.4

p.R201P

c.602G>C

194 papers

NM_000525.4

p.R201H

c.602G>A

1 paper

NM_000525.4

p.S208T

c.623G>C

1 paper

NM_000525.4

p.S208N

c.623G>A

139 papers

NM_000525.4

p.R201C

c.601C>T