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.R72_R74del3

c.214_221del9

Surrounding Variants

1 paper

NM_001194.4

p.G69S

c.205G>A

1 paper

NM_001194.4

p.L75F

c.223C>T

1 paper

NM_001194.4

p.E68_G69del0

c.202_207del6

1 paper

NM_001194.4

p.E68_G70del0

c.202_210del9

4 papers

NM_001194.4

p.R76H

c.227G>A

1 paper

NM_001194.4

p.A65_D67del0

c.193_201del9

1 paper

NM_001194.4

p.P63_A65del0

c.187_195del9

1 paper

NM_001194.4

p.S80N

c.239G>A

1 paper

NM_001194.4

p.R57R

c.171G>C

1 paper

NM_001194.4

p.G48fs

c.142_143fs

1 paper

NM_001194.4

p.S97delFs

c.291delC

1 paper

NM_001194.4

p.P45insFs

c.134dupC