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.K42N

c.126G>C

Surrounding Variants

1 paper

NM_002239.4

p.K42N

c.126G>T

1 paper

NM_002239.4

p.R43W

c.127C>T

1 paper

NM_002239.4

p.K40N

c.120G>C

1 paper

NM_002239.4

p.K40N

c.120G>T

4 papers

NM_002239.4

p.K40R

c.119A>G

1 paper

NM_002239.4

p.K40E

c.118A>G

1 paper

NM_002239.4

p.R45Q

c.134G>A

1 paper

NM_002239.4

p.R45L

c.134G>T

1 paper

NM_002239.4

p.F46L

c.136T>C

1 paper

NM_002239.4

p.P39S

c.115C>T

1 paper

NM_002239.4

p.F46Y

c.137T>A

1 paper

NM_002239.4

p.F46S

c.137T>C