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

34 papers

NM_000525.4

p.H46Y

c.136C>T

Surrounding Variants

20 papers

NM_000525.4

p.H46L

c.137A>T

7 papers

NM_000525.4

p.H46R

c.137A>G

1 paper

NM_000525.4

p.H46P

c.137A>C

1 paper

NM_000525.4

p.A45V

c.134C>T

1 paper

NM_000525.4

p.A45S

c.133G>T

1 paper

NM_000525.4

p.A45T

c.133G>A

1 paper

NM_000525.4

p.K47E

c.139A>G

1 paper

NM_000525.4

p.H46delFs

c.138delG

1 paper

NM_000525.4

p.V44V

c.132G>A

1 paper

NM_000525.4

p.V44A

c.131T>C

1 paper

NM_000525.4

p.K47N

c.141G>T

1 paper

NM_000525.4

p.K47N

c.141G>C