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

8 papers

NM_032369.4

p.M91T

c.272T>C

Surrounding Variants

1 paper

NM_032369.4

p.M91I

c.273G>T

1 paper

NM_032369.4

p.M91I

c.273G>C

1 paper

NM_032369.4

p.M91I

c.273G>A

1 paper

NM_032369.4

p.G90G

c.270C>T

1 paper

NM_032369.4

p.G90G

c.270C>G

1 paper

NM_032369.4

p.R93R

c.279G>A

1 paper

NM_032369.4

p.F88F

c.264C>T

1 paper

NM_032369.4

p.K94*

c.280A>T

1 paper

NM_032369.4

p.F88S

c.263T>C

2 papers

NM_032369.4

p.K94R

c.281A>G

3 papers

NM_032369.4

p.D87D

c.261C>T

1 paper

NM_032369.4

p.L86F

c.256C>T