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

1–12 of 190 variants

15 papers

NM_001194.4

p.E515K

c.1543G>A

12 papers

NM_001194.4

p.S126L

c.377C>T

10 papers

NM_001194.4

p.V246M

c.736G>A

9 papers

NM_001194.4

p.R527Q

c.1580G>A

8 papers

NM_001194.4

p.S632W

c.1895C>G

4 papers

NM_001194.4

p.R76H

c.227G>A

4 papers

NM_001194.4

p.A141delins

c.421_422delinsTT

4 papers

NM_001194.4

p.S198T

c.592T>A

4 papers

NM_001194.4

p.G460D

c.1379G>A

4 papers

NM_001194.4

p.P715del1

c.2143_2145delCCG

4 papers

NM_001194.4

p.F738C

c.2213T>G

3 papers

NM_001194.4

p.P134T

c.400C>A