Varaico: Literature-Extracted Genetic Variants

Gene:HCN2
Variant:p.P790R

HCN2

165 papers

RefSeq Summary

The protein encoded by this gene is a hyperpolarization-activated cation channel involved in the generation of native pacemaker activity in the heart and in the brain. The encoded protein is activated...

Pfam Domains

Ion_trans_Naa 167–210UCSCIon transport protein N-terminal
Ion_transaa 211–474UCSCIon transport protein
cNMP_bindingaa 562–645UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2

HGNC Previous Symbol

BCNG2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001194.4
p.P790R
c.2369C>G
Surrounding Variants
1 paper
NM_001194.4
p.G796C
c.2386G>T
3 papers
NM_001194.4
p.P802S
c.2404C>T
1 paper
NM_001194.4
p.P802L
c.2405C>T
1 paper
NM_001194.4
p.R756C
c.2266C>T
2 papers
NM_001194.4
p.A751A
c.2253G>C
1 paper
NM_001194.4
p.A841G
c.2522C>G
4 papers
NM_001194.4
p.F738C
c.2213T>G
1 paper
NM_001194.4
p.M736I
c.2208G>A
1 paper
NM_001194.4
p.M736I
c.2208G>C
1 paper
NM_001194.4
p.M736I
c.2208G>T
1 paper
NM_001194.4
p.A728delFs
c.2184delC
2 papers
NM_001194.4
p.P721L
c.2162C>T
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