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.E335D

c.1005G>C

Surrounding Variants

1 paper

NM_002239.4

p.E335D

c.1005G>T

1 paper

NM_002239.4

p.F337L

c.1009T>C

1 paper

NM_002239.4

p.F337fs

c.1009_1010fs

1 paper

NM_002239.4

p.E334K

c.1000G>A

1 paper

NM_002239.4

p.E334Q

c.1000G>C

1 paper

NM_002239.4

p.F337L

c.1011C>A

1 paper

NM_002239.4

p.F337L

c.1011C>G

2 papers

NM_002239.4

p.L333S

c.998T>C

1 paper

NM_002239.4

p.F338Y

c.1013T>A

1 paper

NM_002239.4

p.D341Y

c.1021G>T

1 paper

NM_002239.4

p.P329R

c.986C>G

1 paper

NM_002239.4

p.P329L

c.986C>T