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.C344insFs

c.1032dupC

Surrounding Variants

1 paper

NM_000525.4

p.T345A

c.1033A>G

1 paper

NM_000525.4

p.C344delFs

c.1032delG

2 papers

NM_000525.4

p.T345M

c.1034C>T

1 paper

NM_000525.4

p.C344fs

c.1030_1031fs

1 paper

NM_000525.4

p.C344*

c.1032C>A

1 paper

NM_000525.4

p.C344S

c.1031G>C

1 paper

NM_000525.4

p.C344S

c.1030T>A

1 paper

NM_000525.4

p.L343V

c.1027C>G

1 paper

NM_000525.4

p.R347L

c.1040G>T

1 paper

NM_000525.4

p.R347P

c.1040G>C

6 papers

NM_000525.4

p.R347H

c.1040G>A

1 paper

NM_000525.4

p.P342L

c.1025C>T