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.Y138delFs

c.414delG

Surrounding Variants

2 papers

NM_021072.4

p.Y138*

c.414C>G

2 papers

NM_021072.4

p.Y138*

c.414C>A

1 paper

NM_021072.4

p.D140A

c.419A>C

2 papers

NM_021072.4

p.I135V

c.403A>G

1 paper

NM_021072.4

p.I134T

c.401T>C

1 paper

NM_021072.4

p.I134V

c.400A>G

1 paper

NM_021072.4

p.W133S

c.398G>C

6 papers

NM_021072.4

p.G131R

c.391G>C

1 paper

NM_021072.4

p.A130S

c.388G>T

1 paper

NM_021072.4

p.A130P

c.388G>C

1 paper

NM_021072.4

p.T129N

c.386C>A

1 paper

NM_021072.4

p.K128R

c.383A>G