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

3 papers

NM_000220.6

p.C308*

c.924C>A

Surrounding Variants

1 paper

NM_153766.3

p.Q290L

c.869A>T

2 papers

NM_000220.6

p.R311W

c.931C>T

2 papers

NM_000220.6

p.A306V

c.917C>T

NM_153766.3

p.A287V

c.860C>T

8 papers

NM_153766.3

p.R292Q

c.875G>A

2 papers

NM_153766.3

p.S294A

c.880T>G

1 paper

NM_153766.3

p.R292_T293del2

c.874_878del6

1 paper

NM_153766.3

p.T285N

c.854C>A

1 paper

NM_153766.3

p.S294C

c.881C>G

1 paper

NM_153766.3

p.T285A

c.853A>G

3 papers

NM_153766.3

p.V296G

c.887T>G

NM_000220.6

p.V315G

c.944T>G

1 paper

NM_153766.3

p.V296A

c.887T>C

1 paper

NM_153766.3

p.T281insFs

c.842_843dupCA