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.P462L

c.1385C>T

Surrounding Variants

1 paper

NM_002239.4

p.M463V

c.1387A>G

1 paper

NM_002239.4

p.M463K

c.1388T>A

1 paper

NM_002239.4

p.S464G

c.1390A>G

1 paper

NM_002239.4

p.S460Y

c.1379C>A

1 paper

NM_002239.4

p.S460F

c.1379C>T

1 paper

NM_002239.4

p.L459F

c.1377A>C

1 paper

NM_002239.4

p.L459F

c.1377A>T

2 papers

NM_002239.4

p.M458T

c.1373T>C

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.K457R

c.1370A>G

1 paper

NM_002239.4

p.T456P

c.1366A>C