Varaico: Literature-Extracted Genetic Variants

HCN1

326 papers

RefSeq Summary

The membrane protein encoded by this gene is a hyperpolarization-activated cation channel that contributes to the native pacemaker currents in heart and neurons. The encoded protein can homodimerize o...

Pfam Domains

Ion_trans_Naa 98–141UCSCIon transport protein N-terminal

Ion_transaa 142–405UCSCIon transport protein

cNMP_bindingaa 493–576UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

hyperpolarization activated cyclic nucleotide gated potassium channel 1

HGNC Previous Symbol

BCNG1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_021072.4

p.G73_E75ins1

c.218_223dup6

Surrounding Variants

1 paper

NM_021072.4

p.E75ins1

c.223_224insGCG

1 paper

NM_021072.4

p.E75ins2

c.223_224ins6

1 paper

NM_021072.4

p.E75ins3

c.223_224ins9

2 papers

NM_021072.4

p.G74_E75del1

c.221_223delCGC

2 papers

NM_021072.4

p.G68_G69del0

c.202_207del6

2 papers

NM_021072.4

p.G72_G74del3

c.214_221del9

1 paper

NM_021072.4

p.G74_E75del2

c.220_224del6

1 paper

NM_021072.4

p.G73_E75del3

c.217_224del9

1 paper

NM_021072.4

p.G73G

c.219C>T

1 paper

NM_021072.4

p.P77T

c.229C>A

4 papers

NM_021072.4

p.P77P

c.231G>A

1 paper

NM_021072.4

p.A78V

c.233C>T