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

8 papers

NM_000525.4

p.A101D

c.302C>A

Surrounding Variants

1 paper

NM_000525.4

p.A101P

c.301G>C

1 paper

NM_000525.4

p.L100L

c.300G>A

1 paper

NM_000525.4

p.P102insFs

c.305_306insG

1 paper

NM_000525.4

p.S103fs

c.307_308fs

1 paper

NM_000525.4

p.S103G

c.307A>G

1 paper

NM_000525.4

p.S103R

c.307A>C

1 paper

NM_000525.4

p.D99Y

c.295G>T

1 paper

NM_000525.4

p.D99N

c.295G>A

2 papers

NM_000525.4

p.S103S

c.309C>T

1 paper

NM_000525.4

p.S103R

c.309C>G

2 papers

NM_000525.4

p.S103R

c.309C>A

2 papers

NM_000525.4

p.G98G

c.294T>C