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

5 papers

NM_000891.3

p.M301R

c.902T>G

Surrounding Variants

26 papers

NM_000891.3

p.M301K

c.902T>A

2 papers

NM_000891.3

p.M301T

c.902T>C

2 papers

NM_000891.3

p.M301L

c.901A>C

2 papers

NM_000891.3

p.M301V

c.901A>G

2 papers

NM_000891.3

p.M301L

c.901A>T

3 papers

NM_000891.3

p.V302del1

c.904_905delGTG

1 paper

NM_000891.3

p.M301del1

c.901_902delATG

45 papers

NM_000891.3

p.V302M

c.904G>A

1 paper

NM_000891.3

p.V302L

c.904G>C

1 paper

NM_000891.3

p.V302L

c.904G>T

20 papers

NM_000891.3

p.G300D

c.899G>A

8 papers

NM_000891.3

p.G300A

c.899G>C