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

3 papers

NM_021072.4

p.R405Q

c.1214G>A

Surrounding Variants

1 paper

NM_021072.4

p.Y407*

c.1221T>G

1 paper

NM_021072.4

p.Y407*

c.1221T>A

1 paper

NM_021072.4

p.E409V

c.1226A>T

10 papers

NM_021072.4

p.D401H

c.1201G>C

1 paper

NM_021072.4

p.D401N

c.1201G>A

1 paper

NM_021072.4

p.L400P

c.1199T>C

9 papers

NM_021072.4

p.S399P

c.1195T>C

1 paper

NM_021072.4

p.I397V

c.1189A>G

9 papers

NM_021072.4

p.I397L

c.1189A>C

1 paper

NM_021072.4

p.A395V

c.1184C>T

4 papers

NM_021072.4

p.A395G

c.1184C>G

1 paper

NM_021072.4

p.A395T

c.1183G>A