Varaico: Literature-Extracted Genetic Variants

Gene:HCN1
Variant:p.F325S

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.F325S
c.974T>C
Surrounding Variants
1 paper
NM_021072.4
p.D328E
c.984T>G
1 paper
NM_021072.4
p.D328E
c.984T>A
7 papers
NM_021072.4
p.C329S
c.985T>A
7 papers
NM_021072.4
p.C329S
c.986G>C
1 paper
NM_021072.4
p.W330*
c.989G>A
2 papers
NM_021072.4
p.W330C
c.990G>T
2 papers
NM_021072.4
p.W330C
c.990G>C
1 paper
NM_021072.4
p.W330*
c.990G>A
1 paper
NM_021072.4
p.L318*
c.953T>A
1 paper
NM_021072.4
p.C314S
c.941G>C
1 paper
NM_021072.4
p.C314S
c.940T>A
1 paper
NM_021072.4
p.H310Y
c.928C>T
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."