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.R112C

c.334C>T

Surrounding Variants

1 paper

NM_021072.4

p.G115W

c.343G>T

1 paper

NM_021072.4

p.S116G

c.346A>G

1 paper

NM_021072.4

p.N107D

c.319A>G

1 paper

NM_021072.4

p.Q117Q

c.351G>A

1 paper

NM_021072.4

p.K118Q

c.352A>C

1 paper

NM_021072.4

p.L102L

c.304C>T

1 paper

NM_021072.4

p.K122R

c.365A>G

10 papers

NM_021072.4

p.S100F

c.299C>T

2 papers

NM_021072.4

p.S100A

c.298T>G

1 paper

NM_021072.4

p.S100P

c.298T>C

1 paper

NM_021072.4

p.K128R

c.383A>G

1 paper

NM_021072.4

p.M94I

c.282G>T