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

51 papers

NM_000891.3

p.V93I

c.277G>A

Surrounding Variants

1 paper

NM_000891.3

p.V93A

c.278T>C

1 paper

NM_000891.3

p.L94del1

c.280_281delCTG

2 papers

NM_000891.3

p.F92Y

c.275T>A

1 paper

NM_000891.3

p.F92C

c.275T>G

4 papers

NM_000891.3

p.L94P

c.281T>C

2 papers

NM_000891.3

p.F92del1

c.274_275delTTC

1 paper

NM_000891.3

p.A91V

c.272C>T

3 papers

NM_000891.3

p.S95_F98del0

c.283_294del12

1 paper

NM_000891.3

p.A91T

c.271G>A

2 papers

NM_000891.3

p.S95T

c.283T>A

1 paper

NM_000891.3

p.S95A

c.283T>G

1 paper

NM_000891.3

p.L90P

c.269T>C