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_153766.3

p.G148A

c.443G>C

Surrounding Variants

1 paper

NM_153766.3

p.G148E

c.443G>A

1 paper

NM_153766.3

p.V149fs

c.445_446fs

2 papers

NM_153766.3

p.V149L

c.445G>C

1 paper

NM_153766.3

p.V149ins3

c.446_447ins9

1 paper

NM_153766.3

p.L147R

c.440T>G

2 papers

NM_153766.3

p.L147P

c.440T>C

1 paper

NM_153766.3

p.V149A

c.446T>C

2 papers

NM_153766.3

p.N152D

c.454A>G

3 papers

NM_153766.3

p.I142T

c.425T>C

1 paper

NM_153766.3

p.G157A

c.470G>C

1 paper

NM_153766.3

p.A158T

c.472G>A

1 paper

NM_000220.6

p.A156V

c.467C>T