Varaico: Literature-Extracted Genetic Variants

KCNJ14

68 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 53–191UCSCInward rectifier potassium channel transmembrane domain

IRK_Caa 198–371UCSCInward rectifier potassium channel C-terminal domain

Gene Aliases

HGNC Name

potassium inwardly rectifying channel subfamily J member 14

HGNC Alias Symbols

Kir2.4; IRK4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_013348.4

p.H276Q

c.828T>A

Surrounding Variants

3 papers

NM_013348.4

p.H276Q

c.828T>G

1 paper

NM_013348.4

p.E286Q

c.856G>C

2 papers

NM_013348.4

p.R265C

c.793C>T

1 paper

NM_013348.4

p.R289C

c.865C>T

1 paper

NM_013348.4

p.P249Q

c.746C>A

1 paper

NM_013348.4

p.P249L

c.746C>T

1 paper

NM_013348.4

p.R240H

c.719G>A

1 paper

NM_013348.4

p.Y320C

c.959A>G

1 paper

NM_013348.4

p.W327R

c.979T>A

1 paper

NM_013348.4

p.W327R

c.979T>C

1 paper

NM_013348.4

p.R330H

c.989G>A

1 paper

NM_013348.4

p.E343V

c.1028A>T