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.R255S

c.763C>A

Surrounding Variants

2 papers

NM_021072.4

p.R255C

c.763C>T

1 paper

NM_021072.4

p.R255H

c.764G>A

1 paper

NM_021072.4

p.I256N

c.767T>A

1 paper

NM_021072.4

p.T250R

c.749C>G

2 papers

NM_021072.4

p.T260I

c.779C>T

2 papers

NM_021072.4

p.K261E

c.781A>G

1 paper

NM_021072.4

p.I262T

c.785T>C

1 paper

NM_021072.4

p.L263F

c.787C>T

1 paper

NM_021072.4

p.L263V

c.787C>G

2 papers

NM_021072.4

p.E246A

c.737A>C

7 papers

NM_021072.4

p.S264C

c.790A>T

2 papers

NM_021072.4

p.S264G

c.790A>G