Varaico: Literature-Extracted Genetic Variants

HVCN1

126 papers

RefSeq Summary

This gene encodes a voltage-gated protein channel protein expressed more highly in certain cells of the immune system. Phagocytic cells produce superoxide anions which require this channel protein, an...

Pfam Domains

Ion_transaa 98–231UCSCIon transport protein

VGPC1_Caa 226–273UCSCC-terminal membrane-localisation domain of ion-channel, VCN1

Gene Aliases

HGNC Name

hydrogen voltage gated channel 1

HGNC Alias Symbols

MGC15619; Hv1; VSOP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032369.4

p.H168Q

c.504C>G

Surrounding Variants

1 paper

NM_032369.4

p.H168Q

c.504C>A

1 paper

NM_032369.4

p.K169N

c.507G>T

1 paper

NM_032369.4

p.K169N

c.507G>C

1 paper

NM_032369.4

p.H167N

c.499C>A

1 paper

NM_032369.4

p.E171Q

c.511G>C

1 paper

NM_032369.4

p.E171A

c.512A>C

1 paper

NM_032369.4

p.F165F

c.495C>T

1 paper

NM_032369.4

p.I172insFs

c.514_515insCA

1 paper

NM_032369.4

p.E164A

c.491A>C

1 paper

NM_032369.4

p.D174H

c.520G>C

1 paper

NM_032369.4

p.D174N

c.520G>A

3 papers

NM_032369.4

p.D174A

c.521A>C