Varaico: Literature-Extracted Genetic Variants

Gene:HCN1
Variant:p.V223_V224ins9

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.V223_V224ins9
c.667_671ins27
Surrounding Variants
1 paper
NM_021072.4
p.V223_V224insGCG
c.667_671ins9
1 paper
NM_021072.4
p.V223_V224ins6
c.667_671ins18
2 papers
NM_021072.4
p.W221_V223del3
c.661_668del9
1 paper
NM_021072.4
p.L218_V223del6
c.652_668del18
1 paper
NM_021072.4
p.I213F
c.637A>T
1 paper
NM_021072.4
p.D233G
c.698A>G
4 papers
NM_021072.4
p.D233A
c.698A>C
1 paper
NM_021072.4
p.D233E
c.699T>G
1 paper
NM_021072.4
p.D233E
c.699T>A
1 paper
NM_021072.4
p.D202_P210del9
c.604_629del27
1 paper
NM_021072.4
p.E201_D209del9
c.601_626del27
1 paper
NM_021072.4
p.D202_I207del6
c.604_620del18
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