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.R205W

c.613C>T

Surrounding Variants

2 papers

NM_032369.4

p.R205Q

c.614G>A

1 paper

NM_032369.4

p.L206L

c.616C>T

1 paper

NM_032369.4

p.W207G

c.619T>G

2 papers

NM_032369.4

p.W207S

c.620G>C

3 papers

NM_032369.4

p.W207*

c.620G>A

3 papers

NM_032369.4

p.W207*

c.621G>A

3 papers

NM_032369.4

p.R208W

c.622C>T

1 paper

NM_032369.4

p.I202F

c.604A>T

2 papers

NM_032369.4

p.R208Q

c.623G>A

1 paper

NM_032369.4

p.A210T

c.628G>A

1 paper

NM_032369.4

p.A210G

c.629C>G

3 papers

NM_032369.4

p.G199C

c.595G>T