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.V102M

c.304G>A

Surrounding Variants

1 paper

NM_000891.3

p.V102L

c.304G>C

1 paper

NM_000891.3

p.V102L

c.304G>T

19 papers

NM_000891.3

p.V102E

c.305T>A

2 papers

NM_000891.3

p.C101S

c.302G>C

1 paper

NM_000891.3

p.C101F

c.302G>T

2 papers

NM_000891.3

p.C101S

c.301T>A

17 papers

NM_000891.3

p.C101R

c.301T>C

1 paper

NM_000891.3

p.G100G

c.300C>T

2 papers

NM_000891.3

p.G100V

c.299G>T

1 paper

NM_000891.3

p.F103F

c.309T>C

2 papers

NM_000891.3

p.G100S

c.298G>A

1 paper

NM_000891.3

p.G100_C101insC

c.298_302ins3