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.A91T

c.271G>A

Surrounding Variants

1 paper

NM_000891.3

p.A91V

c.272C>T

1 paper

NM_000891.3

p.L90P

c.269T>C

1 paper

NM_000891.3

p.L90R

c.269T>G

2 papers

NM_000891.3

p.F92del1

c.274_275delTTC

2 papers

NM_000891.3

p.F92Y

c.275T>A

1 paper

NM_000891.3

p.F92C

c.275T>G

2 papers

NM_000891.3

p.C89S

c.266G>C

2 papers

NM_000891.3

p.A91_L94del0

c.271_282del12

51 papers

NM_000891.3

p.V93I

c.277G>A

2 papers

NM_000891.3

p.C89S

c.265T>A

1 paper

NM_000891.3

p.C89G

c.265T>G

2 papers

NM_000891.3

p.F88L

c.264C>A