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.M158I

c.474G>C

Surrounding Variants

1 paper

NM_000525.4

p.M158I

c.474G>T

1 paper

NM_000525.4

p.M158I

c.474G>A

2 papers

NM_000525.4

p.M158L

c.472A>T

1 paper

NM_000525.4

p.M158L

c.472A>C

2 papers

NM_000525.4

p.L157R

c.470T>G

20 papers

NM_000525.4

p.N160D

c.478A>G

1 paper

NM_000525.4

p.N160H

c.478A>C

1 paper

NM_000525.4

p.L157V

c.469C>G

1 paper

NM_000525.4

p.N160N

c.480C>T

1 paper

NM_000525.4

p.N160K

c.480C>G

1 paper

NM_000525.4

p.N160K

c.480C>A

1 paper

NM_000525.4

p.A161S

c.481G>T