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.R369L

c.1106G>T

Surrounding Variants

2 papers

NM_000525.4

p.R369P

c.1106G>C

1 paper

NM_000525.4

p.R369H

c.1106G>A

6 papers

NM_000525.4

p.R369C

c.1105C>T

2 papers

NM_000525.4

p.R369S

c.1105C>A

2 papers

NM_000525.4

p.K370*

c.1108A>T

1 paper

NM_000525.4

p.K370E

c.1108A>G

1 paper

NM_000525.4

p.K370Q

c.1108A>C

1 paper

NM_000525.4

p.K370R

c.1109A>G

1 paper

NM_000525.4

p.K370N

c.1110G>T

1 paper

NM_000525.4

p.K370N

c.1110G>C

6 papers

NM_000525.4

p.R371H

c.1112G>A

1 paper

NM_000525.4

p.R371_S372insFs

c.1113_1114insT