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.G153W

c.457G>T

Surrounding Variants

1 paper

NM_001194.4

p.Q159E

c.475C>G

2 papers

NM_001194.4

p.G145S

c.433G>A

1 paper

NM_001194.4

p.E142G

c.425A>G

2 papers

NM_001194.4

p.E142K

c.424G>A

4 papers

NM_001194.4

p.A141delins

c.421_422delinsTT

1 paper

NM_001194.4

p.L170I

c.508C>A

3 papers

NM_001194.4

p.P134T

c.400C>A

1 paper

NM_001194.4

p.P134S

c.400C>T

1 paper

NM_001194.4

p.A131D

c.392C>A

1 paper

NM_001194.4

p.A131P

c.391G>C

12 papers

NM_001194.4

p.S126L

c.377C>T

1 paper

NM_001194.4

p.K187_R195del9

c.559_584del27