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

1 paper

NM_021072.4

p.T196I

c.587C>T

Surrounding Variants

2 papers

NM_021072.4

p.L187_R195del9

c.559_584del27

1 paper

NM_021072.4

p.R195T

c.584G>C

1 paper

NM_021072.4

p.I191_T198del0

c.572_592del21

1 paper

NM_021072.4

p.E201D

c.603A>T

1 paper

NM_021072.4

p.E201D

c.603A>C

1 paper

NM_021072.4

p.N193_E201del9

c.577_602del27

1 paper

NM_021072.4

p.D189Y

c.565G>T

1 paper

NM_021072.4

p.L188_D189delins

c.564_565delinsTA

1 paper

NM_021072.4

p.E201_S203del3

c.601_608del9

1 paper

NM_021072.4

p.S204F

c.611C>T

1 paper

NM_021072.4

p.I206V

c.616A>G

5 papers

NM_021072.4

p.F186C

c.557T>G