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.Y12N

c.34T>A

Surrounding Variants

21 papers

NM_000525.4

p.Y12*

c.36C>G

21 papers

NM_000525.4

p.Y12*

c.36C>A

2 papers

NM_000525.4

p.E11Q

c.31G>C

3 papers

NM_000525.4

p.V13M

c.37G>A

1 paper

NM_000525.4

p.V13G

c.38T>G

7 papers

NM_000525.4

p.E10E

c.30G>A

1 paper

NM_000525.4

p.E10delFs

c.29delT

1 paper

NM_000525.4

p.E10Q

c.28G>C

6 papers

NM_000525.4

p.E10K

c.28G>A

2 papers

NM_000525.4

p.L14L

c.40C>T

1 paper

NM_000525.4

p.L14M

c.40C>A

1 paper

NM_000525.4

p.P9P

c.27C>T