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.T60A

c.178A>G

Surrounding Variants

1 paper

NM_032369.4

p.T60K

c.179C>A

2 papers

NM_032369.4

p.P61L

c.182C>T

1 paper

NM_032369.4

p.P61P

c.183A>G

2 papers

NM_032369.4

p.P61P

c.183A>C

1 paper

NM_032369.4

p.V62A

c.185T>C

1 paper

NM_032369.4

p.V62V

c.186C>T

2 papers

NM_032369.4

p.S63S

c.189A>G

1 paper

NM_032369.4

p.Q56E

c.166C>G

1 paper

NM_032369.4

p.E55del1

c.163_165delCTC

1 paper

NM_032369.4

p.E52_E55del4

c.154_164del12

1 paper

NM_032369.4

p.G64G

c.192C>T

1 paper

NM_032369.4

p.E55G

c.164A>G