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.V103E

c.308T>A

NM_000220.6

p.V122E

c.365T>A

Surrounding Variants

1 paper

NM_153766.3

p.C102Y

c.305G>A

1 paper

NM_153766.3

p.C102S

c.304T>A

2 papers

NM_153766.3

p.N105K

c.315T>G

2 papers

NM_153766.3

p.N105K

c.315T>A

3 papers

NM_153766.3

p.T100T

c.300T>A

1 paper

NM_000220.6

p.H118delFs

c.354delG

1 paper

NM_153766.3

p.N98delFs

c.292_293delTT

1 paper

NM_153766.3

p.G108fs

c.322_323fs

1 paper

NM_153766.3

p.L109F

c.327G>T

1 paper

NM_153766.3

p.L109F

c.327G>C

3 papers

NM_153766.3

p.T110I

c.329C>T

1 paper

NM_153766.3

p.P95P

c.285T>A