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.I318N

c.953T>A

Surrounding Variants

1 paper

NM_000525.4

p.I318V

c.952A>G

1 paper

NM_000525.4

p.P317delFs

c.949delG

1 paper

NM_000525.4

p.P317_I318insFs

c.951_954dup4

1 paper

NM_000525.4

p.P317fs

c.949_950fs

1 paper

NM_000525.4

p.V319_A320del1

c.956_958delCTA

1 paper

NM_000525.4

p.F315L

c.945T>G

1 paper

NM_000525.4

p.F315L

c.945T>A

1 paper

NM_000525.4

p.E321K

c.961G>A

1 paper

NM_000525.4

p.F315C

c.944T>G

2 papers

NM_000525.4

p.F315S

c.944T>C

1 paper

NM_000525.4

p.E321G

c.962A>G

1 paper

NM_000525.4

p.F315L

c.943T>C