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

1–12 of 270 variants

8 papers

NM_153766.3

p.R59S

c.177A>T

8 papers

NM_153766.3

p.R292Q

c.875G>A

7 papers

NM_153766.3

p.R193P

c.578G>C

6 papers

NM_153766.3

p.P166S

c.496C>T

6 papers

NM_000220.6

p.L220F

c.658C>T

6 papers

NM_153766.3

p.H251Y

c.751C>T

6 papers

NM_153766.3

p.F325C

c.974T>G

5 papers

NM_153766.3

p.I66N

c.197T>A

5 papers

NM_153766.3

p.R169H

c.506G>A

5 papers

NM_153766.3

p.A195V

c.584C>T

5 papers

NM_153766.3

p.M338T

c.1013T>C

4 papers

NM_153766.3

p.C30Y

c.89G>A