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.R4S

c.10C>A

Surrounding Variants

8 papers

NM_000525.4

p.R4C

c.10C>T

2 papers

NM_000525.4

p.R4H

c.11G>A

3 papers

NM_000525.4

p.S3C

c.8C>G

3 papers

NM_000525.4

p.L2P

c.5T>C

1 paper

NM_000525.4

p.L2delFs

c.4delG

5 papers

NM_000525.4

p.M1I

c.3G>T

1 paper

NM_000525.4

p.M1_L2insFs

c.3_4insT

4 papers

NM_000525.4

p.M1I

c.3G>C

5 papers

NM_000525.4

p.M1I

c.3G>A

1 paper

NM_000525.4

p.G6D

c.17G>A

1 paper

NM_000525.4

p.M1R

c.2T>G

2 papers

NM_000525.4

p.M1T

c.2T>C