Varaico: Literature-Extracted Genetic Variants

HCN4

399 papers

RefSeq Summary

This gene encodes a member of the hyperpolarization-activated cyclic nucleotide-gated potassium channels. The encoded protein shows slow kinetics of activation and inactivation, and is necessary for t...

Pfam Domains

Ion_trans_Naa 218–261UCSCIon transport protein N-terminal

Ion_transaa 262–525UCSCIon transport protein

cNMP_bindingaa 613–696UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

hyperpolarization activated cyclic nucleotide gated potassium channel 4

HGNC Previous Name

hyperpolarization activated cyclic nucleotide-gated potassium channel 4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_005477.3

p.M1113T

c.3338T>C

Surrounding Variants

6 papers

NM_005477.3

p.M1113V

c.3337A>G

12 papers

NM_005477.3

p.P1117L

c.3350C>T

1 paper

NM_005477.3

p.P1117P

c.3351G>A

1 paper

NM_005477.3

p.A1122D

c.3365C>A

6 papers

NM_005477.3

p.R1102H

c.3305G>A

1 paper

NM_005477.3

p.R1102C

c.3304C>T

1 paper

NM_005477.3

p.Q1099H

c.3297G>T

1 paper

NM_005477.3

p.Q1099H

c.3297G>C

3 papers

NM_005477.3

p.A1098V

c.3293C>T

9 papers

NM_005477.3

p.G1097W

c.3289G>T

1 paper

NM_005477.3

p.G1097R

c.3289G>C

1 paper

NM_005477.3

p.G1097R

c.3289G>A