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.I175T

c.524T>C

Surrounding Variants

2 papers

NM_000891.3

p.I175L

c.523A>C

1 paper

NM_000891.3

p.I176T

c.527T>C

1 paper

NM_000891.3

p.F174V

c.520T>G

1 paper

NM_000891.3

p.G177S

c.529G>A

1 paper

NM_000891.3

p.G177C

c.529G>T

1 paper

NM_000891.3

p.A173V

c.518C>T

3 papers

NM_000891.3

p.A178T

c.532G>A

2 papers

NM_000891.3

p.A178S

c.532G>T

2 papers

NM_000891.3

p.D172E

c.516T>A

2 papers

NM_000891.3

p.D172E

c.516T>G

4 papers

NM_000891.3

p.D172A

c.515A>C

1 paper

NM_000891.3

p.A178E

c.533C>A