Varaico: Literature-Extracted Genetic Variants

HCN2

165 papers

RefSeq Summary

The protein encoded by this gene is a hyperpolarization-activated cation channel involved in the generation of native pacemaker activity in the heart and in the brain. The encoded protein is activated...

Pfam Domains

Ion_trans_Naa 167–210UCSCIon transport protein N-terminal

Ion_transaa 211–474UCSCIon transport protein

cNMP_bindingaa 562–645UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2

HGNC Previous Symbol

BCNG2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001194.4

p.W202_F210del9

c.604_629del27

Surrounding Variants

1 paper

NM_001194.4

p.W202_Y207del6

c.604_620del18

4 papers

NM_001194.4

p.S198T

c.592T>A

3 papers

NM_001194.4

p.H205Q

c.615C>A

3 papers

NM_001194.4

p.H205Q

c.615C>G

1 paper

NM_001194.4

p.Q193_A201del9

c.577_602del27

1 paper

NM_001194.4

p.R191C

c.571C>T

1 paper

NM_001194.4

p.R211Splc

c.632+8C>T

1 paper

NM_001194.4

p.K187_R195del9

c.559_584del27

1 paper

NM_001194.4

p.L170I

c.508C>A

1 paper

NM_001194.4

p.Q159E

c.475C>G

1 paper

NM_001194.4

p.G153W

c.457G>T

2 papers

NM_001194.4

p.G145S

c.433G>A