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.H186Q

c.558T>G

Surrounding Variants

1 paper

NM_000525.4

p.H186Q

c.558T>A

1 paper

NM_000525.4

p.A187P

c.559G>C

8 papers

NM_000525.4

p.A187V

c.560C>T

6 papers

NM_000525.4

p.H186D

c.556C>G

1 paper

NM_000525.4

p.A187E

c.560C>A

3 papers

NM_000525.4

p.K185N

c.555G>T

3 papers

NM_000525.4

p.K185N

c.555G>C

1 paper

NM_000525.4

p.A187A

c.561G>A

1 paper

NM_000525.4

p.L181_A187delFs

c.543_559del17

1 paper

NM_000525.4

p.K185delFs

c.554delT

1 paper

NM_000525.4

p.K185M

c.554A>T

3 papers

NM_000525.4

p.K185R

c.554A>G