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.L56I

c.166C>A

Surrounding Variants

1 paper

NM_000220.6

p.D74Y

c.220G>T

1 paper

NM_153766.3

p.L54R

c.161T>G

1 paper

NM_153766.3

p.V53G

c.158T>G

2 papers

NM_153766.3

p.V53E

c.158T>A

1 paper

NM_153766.3

p.V53I

c.157G>A

3 papers

NM_000220.6

p.T71M

c.212C>T

NM_153766.3

p.T52M

c.155C>T

1 paper

NM_153766.3

p.T52K

c.155C>A

8 papers

NM_153766.3

p.R59S

c.177A>T

3 papers

NM_153766.3

p.R59S

c.177A>C

1 paper

NM_000220.6

p.Y79H

c.235T>C

2 papers

NM_153766.3

p.Y60F

c.179A>T

1 paper

NM_153766.3

p.T51K

c.152C>A