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.L160F

c.480A>C

Surrounding Variants

1 paper

NM_153766.3

p.L160F

c.480A>T

1 paper

NM_153766.3

p.L160S

c.479T>C

1 paper

NM_153766.3

p.A161S

c.481G>T

1 paper

NM_153766.3

p.A161T

c.481G>A

1 paper

NM_153766.3

p.L160V

c.478T>G

1 paper

NM_153766.3

p.A158T

c.472G>A

2 papers

NM_153766.3

p.I163M

c.489C>G

2 papers

NM_153766.3

p.S164P

c.490T>C

1 paper

NM_153766.3

p.S164T

c.490T>A

1 paper

NM_153766.3

p.G157A

c.470G>C

1 paper

NM_000220.6

p.S183C

c.548C>G

1 paper

NM_000220.6

p.R184delFs

c.550delT