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.Y35del1

c.103_105delGTA

Surrounding Variants

1 paper

NM_032369.4

p.H36H

c.108T>C

1 paper

NM_032369.4

p.A37G

c.110C>G

1 paper

NM_032369.4

p.A37D

c.110C>A

2 papers

NM_032369.4

p.A37A

c.111C>T

1 paper

NM_032369.4

p.A37A

c.111C>G

1 paper

NM_032369.4

p.A37A

c.111C>A

1 paper

NM_032369.4

p.W38*

c.113G>A

1 paper

NM_032369.4

p.D33D

c.99C>T

1 paper

NM_032369.4

p.W38*

c.114G>A

1 paper

NM_032369.4

p.N39T

c.116A>C

1 paper

NM_032369.4

p.G32R

c.94G>A

2 papers

NM_032369.4

p.V31A

c.92T>C