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

1–12 of 405 variants

21 papers

NM_021072.4

p.M305L

c.913A>T

21 papers

NM_021072.4

p.M305L

c.913A>C

14 papers

NM_021072.4

p.G391D

c.1172G>A

12 papers

NM_021072.4

p.M153I

c.459G>C

12 papers

NM_021072.4

p.S272P

c.814T>C

11 papers

NM_021072.4

p.M153I

c.459G>T

11 papers

NM_021072.4

p.M153I

c.459G>A

11 papers

NM_021072.4

p.G391S

c.1171G>A

10 papers

NM_021072.4

p.S100F

c.299C>T

10 papers

NM_021072.4

p.R297T

c.890G>C

10 papers

NM_021072.4

p.I380F

c.1138A>T

10 papers

NM_021072.4

p.G391C

c.1171G>T