Varaico: Literature-Extracted Genetic Variants

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.A322V

c.965C>T

Surrounding Variants

2 papers

NM_001194.4

p.R321R

c.963C>T

2 papers

NM_001194.4

p.R324C

c.970C>T

2 papers

NM_001194.4

p.R324H

c.971G>A

1 paper

NM_001194.4

p.R327C

c.979C>T

1 paper

NM_001194.4

p.R327H

c.980G>A

1 paper

NM_001194.4

p.I307I

c.921C>T

2 papers

NM_001194.4

p.F305F

c.915C>T

1 paper

NM_001194.4

p.R342P

c.1025G>C

1 paper

NM_001194.4

p.L343Q

c.1028T>A

2 papers

NM_001194.4

p.V301G

c.902T>G

1 paper

NM_001194.4

p.L343R

c.1028T>G

1 paper

NM_001194.4

p.V301M

c.901G>A