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.M243ins1

c.727_728insCCT

Surrounding Variants

7 papers

NM_021072.4

p.M243R

c.728T>G

4 papers

NM_021072.4

p.E240G

c.719A>G

1 paper

NM_021072.4

p.E240A

c.719A>C

2 papers

NM_021072.4

p.E246A

c.737A>C

2 papers

NM_021072.4

p.V239L

c.715G>T

2 papers

NM_021072.4

p.V239L

c.715G>C

1 paper

NM_021072.4

p.I238I

c.714T>C

1 paper

NM_021072.4

p.T250R

c.749C>G

1 paper

NM_021072.4

p.D233E

c.699T>G

1 paper

NM_021072.4

p.D233E

c.699T>A

1 paper

NM_021072.4

p.D233G

c.698A>G

4 papers

NM_021072.4

p.D233A

c.698A>C