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.D352H

c.1054G>C

Surrounding Variants

1 paper

NM_000525.4

p.H353Q

c.1059C>G

2 papers

NM_000525.4

p.H353Q

c.1059C>A

1 paper

NM_000525.4

p.D350G

c.1049A>G

2 papers

NM_000525.4

p.L349P

c.1046T>C

1 paper

NM_000525.4

p.L349F

c.1045C>T

2 papers

NM_000525.4

p.L355P

c.1064T>C

1 paper

NM_000525.4

p.Q348H

c.1044G>T

1 paper

NM_000525.4

p.Q348H

c.1044G>C

1 paper

NM_000525.4

p.L355insFs

c.1064dupT

1 paper

NM_000525.4

p.L356fs

c.1066_1067fs

1 paper

NM_000525.4

p.R347L

c.1040G>T

1 paper

NM_000525.4

p.R347P

c.1040G>C