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

9 papers

NM_000525.4

p.L233F

c.697C>T

Surrounding Variants

1 paper

NM_000525.4

p.L233R

c.698T>G

1 paper

NM_000525.4

p.P232del1

c.694_695delGGG

1 paper

NM_000525.4

p.P226_P232del0

c.676_696del21

1 paper

NM_000525.4

p.P232R

c.695C>G

2 papers

NM_000525.4

p.V231L

c.691G>T

2 papers

NM_000525.4

p.V231L

c.691G>C

1 paper

NM_000525.4

p.V231M

c.691G>A

3 papers

NM_000525.4

p.Q235*

c.703C>T

3 papers

NM_000525.4

p.Q235E

c.703C>G

1 paper

NM_000525.4

p.Q235H

c.705G>T

1 paper

NM_000525.4

p.Q235H

c.705G>C

1 paper

NM_000525.4

p.S225_E229del5

c.673_686del15