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

2 papers

NM_000525.4

p.V129M

c.385G>A

Surrounding Variants

1 paper

NM_000525.4

p.V129E

c.386T>A

1 paper

NM_000525.4

p.Q128R

c.383A>G

1 paper

NM_000525.4

p.T130A

c.388A>G

5 papers

NM_000525.4

p.T130I

c.389C>T

1 paper

NM_000525.4

p.V127D

c.380T>A

2 papers

NM_000525.4

p.I131V

c.391A>G

1 paper

NM_000525.4

p.I131T

c.392T>C

1 paper

NM_000525.4

p.E126D

c.378G>T

1 paper

NM_000525.4

p.E126D

c.378G>C

1 paper

NM_000525.4

p.I131M

c.393T>G

1 paper

NM_000525.4

p.E126*

c.376G>T

1 paper

NM_000525.4

p.I131ins0

c.391_393dupATT