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.L633P

c.1898T>C

Surrounding Variants

8 papers

NM_001194.4

p.S632W

c.1895C>G

1 paper

NM_001194.4

p.D625H

c.1873G>C

2 papers

NM_001194.4

p.A624A

c.1872T>C

1 paper

NM_001194.4

p.P646insFs

c.1936_1937insT

1 paper

NM_001194.4

p.P646fs

c.1936_1937fs

1 paper

NM_001194.4

p.P646insFs

c.1937_1938insT

2 papers

NM_001194.4

p.M647fs

c.1939_1940fs

1 paper

NM_001194.4

p.T619M

c.1856C>T

1 paper

NM_001194.4

p.R617R

c.1851C>G

1 paper

NM_001194.4

p.R649W

c.1945C>T

1 paper

NM_001194.4

p.R615Q

c.1844G>A

1 paper

NM_001194.4

p.F652V

c.1954T>G