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

2 papers

NM_000891.3

p.K117N

c.351A>T

Surrounding Variants

2 papers

NM_000891.3

p.K117N

c.351A>C

1 paper

NM_000891.3

p.K117R

c.350A>G

3 papers

NM_000891.3

p.E118D

c.354G>C

3 papers

NM_000891.3

p.E118D

c.354G>T

1 paper

NM_000891.3

p.S116P

c.346T>C

2 papers

NM_000891.3

p.A115V

c.344C>T

2 papers

NM_000891.3

p.K120T

c.359A>C

1 paper

NM_000891.3

p.D114G

c.341A>G

1 paper

NM_000891.3

p.D114N

c.340G>A

5 papers

NM_000891.3

p.C122S

c.364T>A

10 papers

NM_000891.3

p.C122Y

c.365G>A

5 papers

NM_000891.3

p.C122S

c.365G>C