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_153766.3

p.S72G

c.214A>G

Surrounding Variants

1 paper

NM_153766.3

p.S72C

c.214A>T

1 paper

NM_153766.3

p.S72T

c.215G>C

1 paper

NM_153766.3

p.W73R

c.217T>C

1 paper

NM_000220.6

p.G90W

c.268G>T

1 paper

NM_153766.3

p.W73C

c.219G>C

1 paper

NM_000220.6

p.F93V

c.277T>G

2 papers

NM_153766.3

p.G77R

c.229G>C

1 paper

NM_153766.3

p.T67A

c.199A>G

5 papers

NM_153766.3

p.I66N

c.197T>A

1 paper

NM_153766.3

p.I66F

c.196A>T

1 paper

NM_153766.3

p.F65L

c.195C>G

1 paper

NM_153766.3

p.F65L

c.195C>A