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

12 papers

NM_021072.4

p.S272P

c.814T>C

Surrounding Variants

1 paper

NM_021072.4

p.S272L

c.815C>T

1 paper

NM_021072.4

p.R270Q

c.809G>A

4 papers

NM_021072.4

p.R270*

c.808C>T

1 paper

NM_021072.4

p.L274S

c.821T>C

1 paper

NM_021072.4

p.L269F

c.807A>T

1 paper

NM_021072.4

p.L269F

c.807A>C

1 paper

NM_021072.4

p.I275S

c.824T>G

2 papers

NM_021072.4

p.I275T

c.824T>C

1 paper

NM_021072.4

p.R267L

c.800G>T

1 paper

NM_021072.4

p.R267H

c.800G>A

1 paper

NM_021072.4

p.L265H

c.794T>A

9 papers

NM_021072.4

p.H279Y

c.835C>T