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

6 papers

NM_000220.6

p.M357T

c.1070T>C

NM_153766.3

p.M338T

c.1013T>C

Surrounding Variants

1 paper

NM_153766.3

p.C339*

c.1017C>A

2 papers

NM_000220.6

p.P353insFs

c.1058_1059insC

NM_153766.3

p.T333insFs

c.998dupC

1 paper

NM_153766.3

p.P334S

c.1000C>T

1 paper

NM_153766.3

p.E332_T333delFs

c.996_999del4

1 paper

NM_153766.3

p.E343K

c.1027G>A

1 paper

NM_153766.3

p.T333fs

c.997_998fs

1 paper

NM_153766.3

p.E343A

c.1028A>C

1 paper

NM_153766.3

p.D345G

c.1034A>G

1 paper

NM_153766.3

p.E330*

c.988G>T

1 paper

NM_153766.3

p.R347*

c.1039A>T

1 paper

NM_153766.3

p.T328I

c.983C>T

6 papers

NM_153766.3

p.F325C

c.974T>G