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.A362G

c.1085C>G

Surrounding Variants

1 paper

NM_000891.3

p.A362T

c.1084G>A

1 paper

NM_000891.3

p.E363G

c.1088A>G

1 paper

NM_000891.3

p.D360A

c.1079A>C

1 paper

NM_000891.3

p.K364T

c.1091A>C

3 papers

NM_000891.3

p.K364R

c.1091A>G

1 paper

NM_000891.3

p.K364N

c.1092G>C

1 paper

NM_000891.3

p.K364N

c.1092G>T

1 paper

NM_000891.3

p.K365Q

c.1093A>C

1 paper

NM_000891.3

p.I367F

c.1099A>T

2 papers

NM_000891.3

p.C356S

c.1067G>C

2 papers

NM_000891.3

p.C356F

c.1067G>T

2 papers

NM_000891.3

p.C356S

c.1066T>A