Varaico: Literature-Extracted Genetic Variants

Gene:HCN1
Variant:p.R88G

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
2 papers
NM_021072.4
p.R88G
c.262C>G
Surrounding Variants
1 paper
NM_021072.4
p.Q90K
c.268C>A
1 paper
NM_021072.4
p.E85D
c.255G>T
1 paper
NM_021072.4
p.E85D
c.255G>C
1 paper
NM_021072.4
p.E85A
c.254A>C
1 paper
NM_021072.4
p.D83D
c.249C>T
1 paper
NM_021072.4
p.M94V
c.280A>G
1 paper
NM_021072.4
p.M94I
c.282G>T
1 paper
NM_021072.4
p.M94I
c.282G>C
1 paper
NM_021072.4
p.M94I
c.282G>A
1 paper
NM_021072.4
p.A78V
c.233C>T
4 papers
NM_021072.4
p.P77P
c.231G>A
1 paper
NM_021072.4
p.P77T
c.229C>A
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