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.D294V

c.881A>T

Surrounding Variants

1 paper

NM_001194.4

p.S298Y

c.893C>A

1 paper

NM_001194.4

p.P300A

c.898C>G

1 paper

NM_001194.4

p.V301M

c.901G>A

2 papers

NM_001194.4

p.V301G

c.902T>G

3 papers

NM_001194.4

p.Y286Y

c.858T>C

1 paper

NM_001194.4

p.K285M

c.854A>T

1 paper

NM_001194.4

p.K283R

c.848A>G

2 papers

NM_001194.4

p.F305F

c.915C>T

1 paper

NM_001194.4

p.K281N

c.843G>C

1 paper

NM_001194.4

p.K281N

c.843G>T

1 paper

NM_001194.4

p.K281E

c.841A>G

1 paper

NM_001194.4

p.I307I

c.921C>T