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.E436A

c.1307A>C

Surrounding Variants

1 paper

NM_001194.4

p.A434V

c.1301C>T

1 paper

NM_001194.4

p.I449I

c.1347T>A

1 paper

NM_001194.4

p.L418V

c.1252C>G

1 paper

NM_001194.4

p.L413L

c.1239G>C

1 paper

NM_001194.4

p.L413L

c.1237C>T

4 papers

NM_001194.4

p.G460D

c.1379G>A

1 paper

NM_001194.4

p.A462T

c.1384G>A

1 paper

NM_001194.4

p.S409W

c.1226C>G

2 papers

NM_001194.4

p.S409L

c.1226C>T

1 paper

NM_001194.4

p.I466V

c.1396A>G

1 paper

NM_001194.4

p.V406_N407Splc

c.1219-23C>T

1 paper

NM_001194.4

p.Y476F

c.1427A>T