Varaico: Literature-Extracted Genetic Variants

HCN1

326 papers

RefSeq Summary

The membrane protein encoded by this gene is a hyperpolarization-activated cation channel that contributes to the native pacemaker currents in heart and neurons. The encoded protein can homodimerize o...

Pfam Domains

Ion_trans_Naa 98–141UCSCIon transport protein N-terminal

Ion_transaa 142–405UCSCIon transport protein

cNMP_bindingaa 493–576UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

hyperpolarization activated cyclic nucleotide gated potassium channel 1

HGNC Previous Symbol

BCNG1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_021072.4

p.L306L

c.916C>T

Surrounding Variants

1 paper

NM_021072.4

p.L306M

c.916C>A

1 paper

NM_021072.4

p.L306R

c.917T>G

1 paper

NM_021072.4

p.M305I

c.915G>T

1 paper

NM_021072.4

p.M305I

c.915G>C

1 paper

NM_021072.4

p.M305I

c.915G>A

1 paper

NM_021072.4

p.M305R

c.914T>G

21 papers

NM_021072.4

p.M305L

c.913A>T

21 papers

NM_021072.4

p.M305L

c.913A>C

2 papers

NM_021072.4

p.L307L

c.921C>T

1 paper

NM_021072.4

p.L308P

c.923T>C

1 paper

NM_021072.4

p.G303C

c.907G>T

1 paper

NM_021072.4

p.H310Y

c.928C>T