Varaico: Literature-Extracted Genetic Variants

Gene:HCN4
Variant:p.V759I

HCN4

399 papers

RefSeq Summary

This gene encodes a member of the hyperpolarization-activated cyclic nucleotide-gated potassium channels. The encoded protein shows slow kinetics of activation and inactivation, and is necessary for t...

Pfam Domains

Ion_trans_Naa 218–261UCSCIon transport protein N-terminal
Ion_transaa 262–525UCSCIon transport protein
cNMP_bindingaa 613–696UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

hyperpolarization activated cyclic nucleotide gated potassium channel 4

HGNC Previous Name

hyperpolarization activated cyclic nucleotide-gated potassium channel 4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
18 papers
NM_005477.3
p.V759I
c.2275G>A
Surrounding Variants
1 paper
NM_005477.3
p.A756T
c.2266G>A
1 paper
NM_005477.3
p.H754Y
c.2260C>T
1 paper
NM_005477.3
p.M752I
c.2256G>T
1 paper
NM_005477.3
p.M752I
c.2256G>C
2 papers
NM_005477.3
p.M752I
c.2256G>A
1 paper
NM_005477.3
p.A765G
c.2294C>G
1 paper
NM_005477.3
p.T766A
c.2296A>G
1 paper
NM_005477.3
p.T770M
c.2309C>T
1 paper
NM_005477.3
p.V772I
c.2314G>A
2 papers
NM_005477.3
p.P776L
c.2327C>T
1 paper
NM_005477.3
p.L777R
c.2330T>G
1 paper
NM_005477.3
p.N739K
c.2217T>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."