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.G52D

c.155G>A

Surrounding Variants

9 papers

NM_000891.3

p.G52V

c.155G>T

1 paper

NM_000891.3

p.D51A

c.152A>C

2 papers

NM_000891.3

p.H53R

c.158A>G

1 paper

NM_000891.3

p.H53_I59del0

c.159_176del18

4 papers

NM_000891.3

p.H53Q

c.159C>A

4 papers

NM_000891.3

p.H53Q

c.159C>G

3 papers

NM_000891.3

p.D51N

c.151G>A

2 papers

NM_000891.3

p.C54S

c.160T>A

1 paper

NM_000891.3

p.C54R

c.160T>C

1 paper

NM_000891.3

p.K50R

c.149A>G

2 papers

NM_000891.3

p.C54S

c.161G>C

10 papers

NM_000891.3

p.C54F

c.161G>T