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.F183C

c.548T>G

Surrounding Variants

1 paper

NM_000525.4

p.I182I

c.546C>A

1 paper

NM_000525.4

p.S184C

c.550A>T

6 papers

NM_000525.4

p.I182T

c.545T>C

32 papers

NM_000525.4

p.I182V

c.544A>G

4 papers

NM_000525.4

p.I182L

c.544A>C

1 paper

NM_000525.4

p.K185*

c.553A>T

9 papers

NM_000525.4

p.K185E

c.553A>G

48 papers

NM_000525.4

p.K185Q

c.553A>C

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