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

3 papers

NM_032369.4

p.G67R

c.199G>C

Surrounding Variants

1 paper

NM_032369.4

p.G67G

c.201C>T

1 paper

NM_032369.4

p.E66A

c.197A>C

1 paper

NM_032369.4

p.R68G

c.202A>G

1 paper

NM_032369.4

p.R68T

c.203G>C

1 paper

NM_032369.4

p.E65A

c.194A>C

1 paper

NM_032369.4

p.E65insFs

c.194_195ins25

1 paper

NM_032369.4

p.E65insFs

c.193_194insC

1 paper

NM_032369.4

p.G64G

c.192C>T

1 paper

NM_032369.4

p.A70insFs

c.209_210ins47

2 papers

NM_032369.4

p.S63S

c.189A>G

1 paper

NM_032369.4

p.A70A

c.210A>T

1 paper

NM_032369.4

p.A70A

c.210A>G