Varaico: Literature-Extracted Genetic Variants

Gene:HCN1
Variant:p.V390I

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.V390I
c.1168G>A
Surrounding Variants
2 papers
NM_021072.4
p.V390A
c.1169T>C
1 paper
NM_021072.4
p.F389F
c.1167T>C
1 paper
NM_021072.4
p.F389S
c.1166T>C
1 paper
NM_021072.4
p.F389Y
c.1166T>A
10 papers
NM_021072.4
p.G391C
c.1171G>T
11 papers
NM_021072.4
p.G391S
c.1171G>A
1 paper
NM_021072.4
p.G391V
c.1172G>T
14 papers
NM_021072.4
p.G391D
c.1172G>A
1 paper
NM_021072.4
p.M388K
c.1163T>A
7 papers
NM_021072.4
p.A387S
c.1159G>T
1 paper
NM_021072.4
p.A395T
c.1183G>A
1 paper
NM_021072.4
p.A395V
c.1184C>T
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