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

48 papers

NM_000525.4

p.K185Q

c.553A>C

Surrounding Variants

1 paper

NM_000525.4

p.K185*

c.553A>T

9 papers

NM_000525.4

p.K185E

c.553A>G

1 paper

NM_000525.4

p.K185M

c.554A>T

3 papers

NM_000525.4

p.K185R

c.554A>G

4 papers

NM_000525.4

p.K185T

c.554A>C

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.K185delFs

c.554delT

6 papers

NM_000525.4

p.H186D

c.556C>G

1 paper

NM_000525.4

p.S184C

c.550A>T

1 paper

NM_000525.4

p.H186Q

c.558T>G

1 paper

NM_000525.4

p.F183C

c.548T>G