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.V74V

c.222T>A

Surrounding Variants

2 papers

NM_032369.4

p.V74V

c.222T>G

1 paper

NM_032369.4

p.P76T

c.226C>A

1 paper

NM_032369.4

p.D73G

c.218A>G

1 paper

NM_032369.4

p.P72S

c.214C>T

1 paper

NM_032369.4

p.P72T

c.214C>A

1 paper

NM_032369.4

p.P78S

c.232C>T

1 paper

NM_032369.4

p.A71T

c.211G>A

1 paper

NM_032369.4

p.A70A

c.210A>T

1 paper

NM_032369.4

p.A70A

c.210A>G

1 paper

NM_032369.4

p.A70insFs

c.209_210ins47

2 papers

NM_032369.4

p.P80L

c.239C>T

1 paper

NM_032369.4

p.R68T

c.203G>C