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.K23R

c.68A>G

Surrounding Variants

1 paper

NM_000525.4

p.K23N

c.69G>C

1 paper

NM_000525.4

p.K23K

c.69G>A

1 paper

NM_000525.4

p.K23delFs

c.68delT

59 papers

NM_000525.4

p.K23E

c.67A>G

4 papers

NM_000525.4

p.K23Q

c.67A>C

1 paper

NM_000525.4

p.A22D

c.65C>A

1 paper

NM_000525.4

p.P24P

c.72C>A

2 papers

NM_000525.4

p.P21L

c.62C>T

1 paper

NM_000525.4

p.P21A

c.61C>G

1 paper

NM_000525.4

p.R25delFs

c.74delC

1 paper

NM_000525.4

p.D20_P21ins1

c.60_61insAGC

2 papers

NM_000525.4

p.D20G

c.59A>G