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.P404R

c.1211C>G

Surrounding Variants

1 paper

NM_000891.3

p.D405Y

c.1213G>T

1 paper

NM_000891.3

p.D405G

c.1214A>G

1 paper

NM_000891.3

p.P403H

c.1208C>A

1 paper

NM_000891.3

p.P403T

c.1207C>A

1 paper

NM_000891.3

p.P403A

c.1207C>G

1 paper

NM_000891.3

p.T402K

c.1205C>A

3 papers

NM_000891.3

p.T402M

c.1205C>T

2 papers

NM_000891.3

p.I406T

c.1217T>C

1 paper

NM_000891.3

p.D401G

c.1202A>G

1 paper

NM_000891.3

p.D401V

c.1202A>T

2 papers

NM_000891.3

p.L408V

c.1222C>G

1 paper

NM_000891.3

p.T400R

c.1199C>G