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.S453A

c.1357T>G

Surrounding Variants

2 papers

NM_002239.4

p.V452I

c.1354G>A

1 paper

NM_002239.4

p.T455fs

c.1363_1364fs

1 paper

NM_002239.4

p.K450I

c.1349A>T

1 paper

NM_002239.4

p.T456P

c.1366A>C

1 paper

NM_002239.4

p.E449*

c.1345G>T

1 paper

NM_002239.4

p.K457R

c.1370A>G

1 paper

NM_002239.4

p.M458L

c.1372A>C

1 paper

NM_002239.4

p.M458L

c.1372A>T

1 paper

NM_002239.4

p.E448K

c.1342G>A

2 papers

NM_002239.4

p.M458T

c.1373T>C

1 paper

NM_002239.4

p.L459F

c.1377A>C

1 paper

NM_002239.4

p.L459F

c.1377A>T