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

2 papers

NM_001194.4

p.N688S

c.2063A>G

Surrounding Variants

1 paper

NM_001194.4

p.S680S

c.2040G>A

1 paper

NM_001194.4

p.S680W

c.2039C>G

1 paper

NM_001194.4

p.Q703E

c.2107C>G

1 paper

NM_001194.4

p.A705T

c.2113G>A

1 paper

NM_001194.4

p.L707V

c.2119C>G

1 paper

NM_001194.4

p.K666E

c.1996A>G

1 paper

NM_001194.4

p.K665E

c.1993A>G

1 paper

NM_001194.4

p.K666del1

c.1996_1997delAAG

1 paper

NM_001194.4

p.G664Splc

c.1991-4G>T

1 paper

NM_001194.4

p.F714L

c.2140T>C

1 paper

NM_001194.4

p.F714L

c.2142C>A

2 papers

NM_001194.4

p.P721_Q722ins0

c.2162_2164dupCGC