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

2 papers

NM_153766.3

p.S25A

c.73T>G

Surrounding Variants

2 papers

NM_153766.3

p.V24A

c.71T>C

2 papers

NM_153766.3

p.V24D

c.71T>A

1 paper

NM_153766.3

p.K26I

c.77A>T

1 paper

NM_153766.3

p.K26N

c.78A>T

1 paper

NM_153766.3

p.K26N

c.78A>C

1 paper

NM_000220.6

p.R41delFs

c.123delC

1 paper

NM_000220.6

p.R41S

c.123G>T

1 paper

NM_000220.6

p.R41S

c.123G>C

2 papers

NM_153766.3

p.R22M

c.65G>T

5 papers

NM_153766.3

p.C30Y

c.89G>A

NM_000220.6

p.C49Y

c.146G>A

1 paper

NM_153766.3

p.Q19*

c.55C>T

1 paper

NM_153766.3

p.R18R

c.54G>C