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.M160I

c.480G>C

Surrounding Variants

2 papers

NM_000891.3

p.V161M

c.481G>A

1 paper

NM_000891.3

p.M160V

c.478A>G

1 paper

NM_000891.3

p.F159L

c.477C>A

1 paper

NM_000891.3

p.F159L

c.477C>G

1 paper

NM_000891.3

p.V162L

c.484G>C

1 paper

NM_000891.3

p.V162L

c.484G>T

1 paper

NM_000891.3

p.F159S

c.476T>C

1 paper

NM_000891.3

p.F159I

c.475T>A

1 paper

NM_000891.3

p.F159L

c.475T>C

1 paper

NM_000891.3

p.V162G

c.485T>G

1 paper

NM_000891.3

p.F163_S165del0

c.488_493del6

2 papers

NM_000891.3

p.F163V

c.487T>G