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.A70P

c.208G>C

Surrounding Variants

3 papers

NM_000891.3

p.A70T

c.208G>A

6 papers

NM_000891.3

p.A70S

c.208G>T

3 papers

NM_000891.3

p.A70V

c.209C>T

2 papers

NM_000891.3

p.L69I

c.205C>A

18 papers

NM_000891.3

p.D71N

c.211G>A

2 papers

NM_000891.3

p.D71H

c.211G>C

3 papers

NM_000891.3

p.D71Y

c.211G>T

1 paper

NM_000891.3

p.D71A

c.212A>C

45 papers

NM_000891.3

p.D71V

c.212A>T

1 paper

NM_000891.3

p.D71E

c.213C>A

1 paper

NM_000891.3

p.D71E

c.213C>G

1 paper

NM_000891.3

p.I72L

c.214A>C