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_000220.6

p.G239fs

c.715_716fs

Surrounding Variants

1 paper

NM_000220.6

p.G239delFs

c.716delC

1 paper

NM_153766.3

p.P218L

c.653C>T

1 paper

NM_153766.3

p.I223L

c.667A>C

3 papers

NM_000220.6

p.T234I

c.701C>T

NM_153766.3

p.T215I

c.644C>T

1 paper

NM_153766.3

p.T214I

c.641C>T

1 paper

NM_153766.3

p.T214A

c.640A>G

1 paper

NM_153766.3

p.L212L

c.634C>T

4 papers

NM_153766.3

p.L211R

c.632T>G

1 paper

NM_153766.3

p.G209V

c.626G>T

3 papers

NM_000220.6

p.G228E

c.683G>A

NM_153766.3

p.G209E

c.626G>A

1 paper

NM_153766.3

p.Y208C

c.623A>G

1 paper

NM_000220.6

p.F251S

c.752T>C