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

1–12 of 698 variants

99 papers

NM_000891.3

p.D172N

c.514G>A

82 papers

NM_000891.3

p.R218W

c.652C>T

69 papers

NM_000891.3

p.R67W

c.199C>T

55 papers

NM_000891.3

p.R218Q

c.653G>A

51 papers

NM_000891.3

p.V93I

c.277G>A

45 papers

NM_000891.3

p.D71V

c.212A>T

45 papers

NM_000891.3

p.V302M

c.904G>A

34 papers

NM_000891.3

p.R67Q

c.200G>A

33 papers

NM_000891.3

p.G300V

c.899G>T

31 papers

NM_000891.3

p.T75M

c.224C>T

30 papers

NM_000891.3

p.T75R

c.224C>G

30 papers

NM_000891.3

p.E303K

c.907G>A