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.Q40*

c.118C>T

Surrounding Variants

2 papers

NM_153766.3

p.F43L

c.129T>A

1 paper

NM_000220.6

p.F53C

c.158T>G

1 paper

NM_153766.3

p.E33A

c.98A>C

2 papers

NM_153766.3

p.V47M

c.139G>A

1 paper

NM_000220.6

p.V66E

c.197T>A

1 paper

NM_153766.3

p.N31I

c.92A>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.T51K

c.152C>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

1 paper

NM_153766.3

p.V53I

c.157G>A

1 paper

NM_153766.3

p.V53G

c.158T>G