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.C107G

c.319T>G

Surrounding Variants

1 paper

NM_032369.4

p.C107S

c.319T>A

1 paper

NM_032369.4

p.C107S

c.320G>C

1 paper

NM_032369.4

p.I106T

c.317T>C

2 papers

NM_032369.4

p.I105_I106insFs

c.315_316insC

1 paper

NM_032369.4

p.V103_I105del3

c.307_314del9

3 papers

NM_032369.4

p.V109A

c.326T>C

3 papers

NM_032369.4

p.I104T

c.311T>C

1 paper

NM_032369.4

p.V103_I104insFs

c.309_310insC

1 paper

NM_032369.4

p.V110D

c.329T>A

1 paper

NM_032369.4

p.V103V

c.309C>T

1 paper

NM_032369.4

p.V103A

c.308T>C

4 papers

NM_032369.4

p.D112H

c.334G>C