Varaico: Literature-Extracted Genetic Variants

Gene:HCN1
Variant:p.Y289D

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
3 papers
NM_021072.4
p.Y289D
c.865T>G
Surrounding Variants
1 paper
NM_021072.4
p.Y289F
c.866A>T
1 paper
NM_021072.4
p.T288P
c.862A>C
1 paper
NM_021072.4
p.H286N
c.856C>A
1 paper
NM_021072.4
p.F285L
c.855C>G
1 paper
NM_021072.4
p.F285L
c.855C>A
1 paper
NM_021072.4
p.F285L
c.853T>C
10 papers
NM_021072.4
p.R297T
c.890G>C
1 paper
NM_021072.4
p.R297K
c.890G>A
1 paper
NM_021072.4
p.G303C
c.907G>T
21 papers
NM_021072.4
p.M305L
c.913A>T
21 papers
NM_021072.4
p.M305L
c.913A>C
1 paper
NM_021072.4
p.M305R
c.914T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."