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

35 papers

NM_000525.4

p.C166S

c.496T>A

Surrounding Variants

1 paper

NM_000525.4

p.C166R

c.496T>C

20 papers

NM_000525.4

p.C166F

c.497G>T

35 papers

NM_000525.4

p.C166S

c.497G>C

26 papers

NM_000525.4

p.C166Y

c.497G>A

1 paper

NM_000525.4

p.G165G

c.495C>T

1 paper

NM_000525.4

p.G165D

c.494G>A

1 paper

NM_000525.4

p.A161_L164del0

c.481_492del12

2 papers

NM_000525.4

p.C166W

c.498C>G

1 paper

NM_000525.4

p.C166fs

c.496_497fs

1 paper

NM_000525.4

p.C166*

c.498C>A

5 papers

NM_000525.4

p.I167F

c.499A>T

2 papers

NM_000525.4

p.I167V

c.499A>G