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.E153K

c.457G>A

Surrounding Variants

1 paper

NM_000891.3

p.E153Q

c.457G>C

1 paper

NM_000891.3

p.E153fs

c.457_458fs

1 paper

NM_000891.3

p.D152E

c.456T>A

1 paper

NM_000891.3

p.D152E

c.456T>G

1 paper

NM_000891.3

p.E153delFs

c.457delG

1 paper

NM_000891.3

p.E153D

c.459A>C

1 paper

NM_000891.3

p.E153D

c.459A>T

1 paper

NM_000891.3

p.D152N

c.454G>A

3 papers

NM_000891.3

p.C154S

c.460T>A

1 paper

NM_000891.3

p.C154R

c.460T>C

1 paper

NM_000891.3

p.C154G

c.460T>G

8 papers

NM_000891.3

p.C154Y

c.461G>A