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.V296F

c.886G>T

Surrounding Variants

3 papers

NM_000891.3

p.V295A

c.884T>C

1 paper

NM_000891.3

p.V295G

c.884T>G

1 paper

NM_000891.3

p.V295M

c.883G>A

1 paper

NM_000891.3

p.V295insFs

c.883dupG

1 paper

NM_000891.3

p.E299_V302del0

c.896_904del9

4 papers

NM_000891.3

p.L298R

c.893T>G

1 paper

NM_000891.3

p.L298L

c.894G>T

3 papers

NM_000891.3

p.E293K

c.877G>A

2 papers

NM_000891.3

p.E299Q

c.895G>C

1 paper

NM_000891.3

p.E293Q

c.877G>C

5 papers

NM_000891.3

p.E299A

c.896A>C

2 papers

NM_000891.3

p.E299G

c.896A>G