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

2 papers

NM_032369.4

p.I154I

c.462C>T

Surrounding Variants

1 paper

NM_032369.4

p.E153D

c.459G>T

1 paper

NM_032369.4

p.E153D

c.459G>C

1 paper

NM_032369.4

p.I155I

c.465C>T

1 paper

NM_032369.4

p.E153V

c.458A>T

1 paper

NM_032369.4

p.E153G

c.458A>G

4 papers

NM_032369.4

p.E153A

c.458A>C

1 paper

NM_032369.4

p.E153Q

c.457G>C

1 paper

NM_032369.4

p.K157Q

c.469A>C

1 paper

NM_032369.4

p.K157I

c.470A>T

1 paper

NM_032369.4

p.M151I

c.453G>A

1 paper

NM_032369.4

p.M151T

c.452T>C

1 paper

NM_032369.4

p.F150L

c.450T>G