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

5 papers

NM_002239.4

p.H346H

c.1038T>C

Surrounding Variants

1 paper

NM_002239.4

p.H346Y

c.1036C>T

1 paper

NM_002239.4

p.F345L

c.1035C>A

1 paper

NM_002239.4

p.F345L

c.1035C>G

1 paper

NM_002239.4

p.F345L

c.1033T>C

2 papers

NM_002239.4

p.Q344Q

c.1032G>A

1 paper

NM_002239.4

p.Q344P

c.1031A>C

1 paper

NM_002239.4

p.Q344K

c.1030C>A

1 paper

NM_002239.4

p.D341Y

c.1021G>T

1 paper

NM_002239.4

p.T353N

c.1058C>A

1 paper

NM_002239.4

p.P355T

c.1063C>A

1 paper

NM_002239.4

p.F338Y

c.1013T>A

1 paper

NM_002239.4

p.F337L

c.1011C>A