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

3 papers

NM_000525.4

p.A190T

c.568G>A

Surrounding Variants

1 paper

NM_000525.4

p.A190P

c.568G>C

5 papers

NM_000525.4

p.A190A

c.570C>T

NM_001166290.2

p.A103A

c.309C>T

1 paper

NM_000525.4

p.A190A

c.570C>A

1 paper

NM_000525.4

p.L191V

c.571C>G

1 paper

NM_000525.4

p.I189V

c.565A>G

1 paper

NM_000525.4

p.V188G

c.563T>G

3 papers

NM_000525.4

p.R192C

c.574C>T

1 paper

NM_000525.4

p.R192S

c.574C>A

9 papers

NM_000525.4

p.R192H

c.575G>A

1 paper

NM_000525.4

p.A187A

c.561G>A

1 paper

NM_000525.4

p.L181_A187delFs

c.543_559del17

8 papers

NM_000525.4

p.A187V

c.560C>T