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.S166A

c.496T>G

Surrounding Variants

1 paper

NM_002239.4

p.S166F

c.497C>T

2 papers

NM_002239.4

p.Q165L

c.494A>T

1 paper

NM_002239.4

p.I167L

c.499A>C

1 paper

NM_002239.4

p.F164Y

c.491T>A

1 paper

NM_002239.4

p.L168M

c.502C>A

1 paper

NM_002239.4

p.L168V

c.502C>G

4 papers

NM_002239.4

p.L168R

c.503T>G

1 paper

NM_002239.4

p.G169A

c.506G>C

6 papers

NM_002239.4

p.S170P

c.508T>C

1 paper

NM_002239.4

p.S170A

c.508T>G

1 paper

NM_002239.4

p.S170C

c.509C>G

1 paper

NM_002239.4

p.I160T

c.479T>C