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.F333V

c.997T>G

Surrounding Variants

8 papers

NM_000525.4

p.F333L

c.997T>C

32 papers

NM_000525.4

p.F333I

c.997T>A

2 papers

NM_000525.4

p.F333S

c.998T>C

8 papers

NM_000525.4

p.F333L

c.999T>G

8 papers

NM_000525.4

p.F333L

c.999T>A

7 papers

NM_000525.4

p.G334C

c.1000G>T

2 papers

NM_000525.4

p.G334R

c.1000G>C

2 papers

NM_000525.4

p.G334S

c.1000G>A

10 papers

NM_000525.4

p.G334V

c.1001G>T

73 papers

NM_000525.4

p.G334D

c.1001G>A

1 paper

NM_000525.4

p.S331C

c.992C>G

4 papers

NM_000525.4

p.S331P

c.991T>C