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.A113D

c.338C>A

Surrounding Variants

10 papers

NM_032369.4

p.D112E

c.336T>G

10 papers

NM_032369.4

p.D112E

c.336T>A

8 papers

NM_032369.4

p.D112V

c.335A>T

2 papers

NM_032369.4

p.D112G

c.335A>G

7 papers

NM_032369.4

p.D112A

c.335A>C

4 papers

NM_032369.4

p.D112H

c.334G>C

6 papers

NM_032369.4

p.D112N

c.334G>A

1 paper

NM_032369.4

p.L115V

c.343C>G

2 papers

NM_032369.4

p.V116E

c.347T>A

1 paper

NM_032369.4

p.V110D

c.329T>A

3 papers

NM_032369.4

p.V109A

c.326T>C

1 paper

NM_032369.4

p.L117fs

c.349_350fs