Varaico: Literature-Extracted Genetic Variants

Gene:HCN1
Variant:p.A395V

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.A395V
c.1184C>T
Surrounding Variants
4 papers
NM_021072.4
p.A395G
c.1184C>G
1 paper
NM_021072.4
p.A395T
c.1183G>A
1 paper
NM_021072.4
p.I397V
c.1189A>G
9 papers
NM_021072.4
p.I397L
c.1189A>C
9 papers
NM_021072.4
p.S399P
c.1195T>C
1 paper
NM_021072.4
p.G391V
c.1172G>T
14 papers
NM_021072.4
p.G391D
c.1172G>A
10 papers
NM_021072.4
p.G391C
c.1171G>T
11 papers
NM_021072.4
p.G391S
c.1171G>A
2 papers
NM_021072.4
p.V390A
c.1169T>C
1 paper
NM_021072.4
p.L400P
c.1199T>C
1 paper
NM_021072.4
p.V390I
c.1168G>A
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