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

3 papers

NM_001194.4

p.P719_Q722del0

c.2156_2164del9

Surrounding Variants

1 paper

NM_001194.4

p.F714L

c.2142C>A

2 papers

NM_001194.4

p.P721_Q722ins0

c.2162_2164dupCGC

1 paper

NM_001194.4

p.F714L

c.2142C>G

4 papers

NM_001194.4

p.P715del1

c.2143_2145delCCG

1 paper

NM_001194.4

p.P720_Q722del0

c.2159_2164del6

1 paper

NM_001194.4

p.F714L

c.2140T>C

1 paper

NM_001194.4

p.P720delFs

c.2159delC

1 paper

NM_001194.4

p.P720fs

c.2158_2159fs

1 paper

NM_001194.4

p.P720R

c.2159C>G

2 papers

NM_001194.4

p.P721L

c.2162C>T

1 paper

NM_001194.4

p.L707V

c.2119C>G

1 paper

NM_001194.4

p.A705T

c.2113G>A