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

11 papers

NM_000891.3

p.R260P

c.779G>C

Surrounding Variants

4 papers

NM_000891.3

p.R260H

c.779G>A

3 papers

NM_000891.3

p.R260C

c.778C>T

2 papers

NM_000891.3

p.I261V

c.781A>G

5 papers

NM_000891.3

p.D259A

c.776A>C

3 papers

NM_000891.3

p.D259N

c.775G>A

1 paper

NM_000891.3

p.I258M

c.774C>G

1 paper

NM_000891.3

p.F262V

c.784T>G

3 papers

NM_000891.3

p.I258T

c.773T>C

1 paper

NM_000891.3

p.I258L

c.772A>C

1 paper

NM_000891.3

p.G257R

c.769G>A

1 paper

NM_000891.3

p.G257R

c.769G>C

1 paper

NM_000891.3

p.D255E

c.765C>A