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

6 papers

NM_002239.4

p.S170P

c.508T>C

Surrounding Variants

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.G169A

c.506G>C

4 papers

NM_002239.4

p.L168R

c.503T>G

1 paper

NM_002239.4

p.L168M

c.502C>A

1 paper

NM_002239.4

p.L168V

c.502C>G

1 paper

NM_002239.4

p.V172M

c.514G>A

1 paper

NM_002239.4

p.V172A

c.515T>C

1 paper

NM_002239.4

p.V172V

c.516G>T

1 paper

NM_002239.4

p.I167L

c.499A>C

4 papers

NM_002239.4

p.D173N

c.517G>A

2 papers

NM_002239.4

p.D173A

c.518A>C