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.D185V

c.554A>T

Surrounding Variants

9 papers

NM_032369.4

p.D185A

c.554A>C

2 papers

NM_032369.4

p.D185H

c.553G>C

2 papers

NM_032369.4

p.D185N

c.553G>A

1 paper

NM_032369.4

p.V187A

c.560T>C

3 papers

NM_032369.4

p.S181A

c.541T>G

1 paper

NM_032369.4

p.V179E

c.536T>A

1 paper

NM_032369.4

p.E192K

c.574G>A

2 papers

NM_032369.4

p.V178A

c.533T>C

2 papers

NM_032369.4

p.E192A

c.575A>C

1 paper

NM_032369.4

p.F195C

c.584T>G

1 paper

NM_032369.4

p.A175V

c.524C>T

2 papers

NM_032369.4

p.D174E

c.522T>G