Varaico: Literature-Extracted Genetic Variants

KCNJ3

266 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 47–187UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 194–366UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 3

HGNC Alias Symbols

Kir3.1; GIRK1; KGA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002239.4

p.G324C

c.970G>T

Surrounding Variants

1 paper

NM_002239.4

p.W323C

c.969G>C

1 paper

NM_002239.4

p.W323C

c.969G>T

1 paper

NM_002239.4

p.H325Y

c.973C>T

1 paper

NM_002239.4

p.L322I

c.964C>A

2 papers

NM_002239.4

p.L322F

c.964C>T

1 paper

NM_002239.4

p.R326H

c.977G>A

1 paper

NM_002239.4

p.E320*

c.958G>T

1 paper

NM_002239.4

p.F328L

c.982T>C

1 paper

NM_002239.4

p.F328L

c.984T>A

1 paper

NM_002239.4

p.F328L

c.984T>G

4 papers

NM_002239.4

p.P329S

c.985C>T

1 paper

NM_002239.4

p.P329fs

c.985_986fs