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.E239D

c.717G>C

Surrounding Variants

1 paper

NM_001194.4

p.E239D

c.717G>T

3 papers

NM_001194.4

p.D238D

c.714T>C

1 paper

NM_001194.4

p.T241T

c.723T>C

10 papers

NM_001194.4

p.V246M

c.736G>A

1 paper

NM_001194.4

p.D252N

c.754G>A

1 paper

NM_001194.4

p.L226V

c.676C>G

1 paper

NM_001194.4

p.F254L

c.760T>C

1 paper

NM_001194.4

p.F254L

c.762C>A

1 paper

NM_001194.4

p.F254L

c.762C>G

1 paper

NM_001194.4

p.F221L

c.663C>A

1 paper

NM_001194.4

p.F221L

c.663C>G

1 paper

NM_001194.4

p.F221L

c.661T>C