Varaico: Literature-Extracted Genetic Variants

KCNJ2

812 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

IRK_Naa 1–47UCSCInward rectifier potassium channel N-terminal

IRKaa 48–186UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 193–366UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 2

HGNC Alias Symbols

Kir2.1; IRK1; LQT7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000891.3

p.N251I

c.752A>T

Surrounding Variants

2 papers

NM_000891.3

p.N251S

c.752A>G

3 papers

NM_000891.3

p.N251D

c.751A>G

1 paper

NM_000891.3

p.V252A

c.755T>C

1 paper

NM_000891.3

p.G253R

c.757G>A

1 paper

NM_000891.3

p.D249N

c.745G>A

1 paper

NM_000891.3

p.I248M

c.744A>G

1 paper

NM_000891.3

p.F254L

c.760T>C

2 papers

NM_000891.3

p.F254V

c.760T>G

2 papers

NM_000891.3

p.F254Y

c.761T>A

1 paper

NM_000891.3

p.I248T

c.743T>C

1 paper

NM_000891.3

p.F254L

c.762T>A

1 paper

NM_000891.3

p.F254L

c.762T>G