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

1–12 of 526 variants

42 papers

NM_002239.4

p.F137S

c.410T>C

7 papers

NM_002239.4

p.N217D

c.649A>G

6 papers

NM_002239.4

p.N83H

c.247A>C

6 papers

NM_002239.4

p.S170P

c.508T>C

5 papers

NM_002239.4

p.H346H

c.1038T>C

4 papers

NM_002239.4

p.K40R

c.119A>G

4 papers

NM_002239.4

p.E139Q

c.415G>C

4 papers

NM_002239.4

p.A142T

c.424G>A

4 papers

NM_002239.4

p.L168R

c.503T>G

4 papers

NM_002239.4

p.D173N

c.517G>A

4 papers

NM_002239.4

p.P329S

c.985C>T

3 papers

NM_002239.4

p.E141Q

c.421G>C