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.E303D

c.909A>C

Surrounding Variants

1 paper

NM_000891.3

p.E303D

c.909A>T

30 papers

NM_000891.3

p.E303K

c.907G>A

1 paper

NM_000891.3

p.E303Q

c.907G>C

7 papers

NM_000891.3

p.T305P

c.913A>C

21 papers

NM_000891.3

p.T305A

c.913A>G

7 papers

NM_000891.3

p.T305S

c.913A>T

1 paper

NM_000891.3

p.V302A

c.905T>C

7 papers

NM_000891.3

p.T305S

c.914C>G

2 papers

NM_000891.3

p.T305I

c.914C>T

45 papers

NM_000891.3

p.V302M

c.904G>A

1 paper

NM_000891.3

p.V302L

c.904G>C

1 paper

NM_000891.3

p.V302L

c.904G>T