Varaico: Literature-Extracted Genetic Variants

KCNJ1

258 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

IRKaa 43–185UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 192–365UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 1

HGNC Alias Symbols

Kir1.1; ROMK1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_153766.3

p.W80*

c.240G>A

Surrounding Variants

2 papers

NM_153766.3

p.W80C

c.240G>T

NM_000220.6

p.W99C

c.297G>T

2 papers

NM_153766.3

p.W80C

c.240G>C

NM_000220.6

p.W99C

c.297G>C

1 paper

NM_153766.3

p.W80*

c.239G>A

1 paper

NM_000220.6

p.Y100F

c.299A>T

1 paper

NM_153766.3

p.Y81C

c.242A>G

1 paper

NM_153766.3

p.L79Q

c.236T>A

2 papers

NM_153766.3

p.G77R

c.229G>C

1 paper

NM_000220.6

p.F93V

c.277T>G

1 paper

NM_153766.3

p.W73C

c.219G>C

1 paper

NM_153766.3

p.K88E

c.262A>G

1 paper

NM_153766.3

p.W73R

c.217T>C

2 papers

NM_153766.3

p.K88insFs

c.263_264insCC