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

1 paper

NM_000525.4

p.L63L

c.189G>A

Surrounding Variants

5 papers

NM_000525.4

p.V64L

c.190G>T

5 papers

NM_000525.4

p.V64L

c.190G>C

8 papers

NM_000525.4

p.V64M

c.190G>A

2 papers

NM_000525.4

p.V64G

c.191T>G

1 paper

NM_000525.4

p.V64V

c.192G>C

1 paper

NM_000525.4

p.T62delFs

c.185delG

1 paper

NM_000525.4

p.D65N

c.193G>A

7 papers

NM_000525.4

p.T62M

c.185C>T

1 paper

NM_000525.4

p.T62R

c.185C>G

1 paper

NM_000525.4

p.T62A

c.184A>G

1 paper

NM_000525.4

p.D65A

c.194A>C

1 paper

NM_000525.4

p.T61S

c.182C>G