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

12 papers

NM_000525.4

p.F55L

c.165C>A

Surrounding Variants

12 papers

NM_000525.4

p.F55L

c.165C>G

1 paper

NM_000525.4

p.F55S

c.164T>C

1 paper

NM_000525.4

p.F55Y

c.164T>A

2 papers

NM_000525.4

p.L56L

c.166C>T

9 papers

NM_000525.4

p.L56M

c.166C>A

12 papers

NM_000525.4

p.F55L

c.163T>C

1 paper

NM_000525.4

p.F55I

c.163T>A

1 paper

NM_000525.4

p.L56delins

c.166_167delinsGG

1 paper

NM_000525.4

p.R54L

c.161G>T

5 papers

NM_000525.4

p.R54H

c.161G>A

1 paper

NM_000525.4

p.Q57*

c.169C>T

1 paper

NM_000525.4

p.Q57E

c.169C>G