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

15 papers

NM_001194.4

p.E515K

c.1543G>A

Surrounding Variants

1 paper

NM_001194.4

p.L526fs

c.1576_1577fs

9 papers

NM_001194.4

p.R527Q

c.1580G>A

1 paper

NM_001194.4

p.E528_E529Splc

c.1584+2T>G

2 papers

NM_001194.4

p.E528_E529Splc

c.1584+7C>T

1 paper

NM_001194.4

p.F496L

c.1488C>A

1 paper

NM_001194.4

p.F496L

c.1488C>G

1 paper

NM_001194.4

p.F496L

c.1486T>C

2 papers

NM_001194.4

p.P493L

c.1478C>T

1 paper

NM_001194.4

p.E484E

c.1452G>A

1 paper

NM_001194.4

p.K479_Y480Splc

c.1438-16C>G

1 paper

NM_001194.4

p.K479E

c.1435A>G

2 papers

NM_001194.4

p.E478A

c.1433A>C