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

1 paper

NM_005477.3

p.P1042L

c.3125C>T

Surrounding Variants

3 papers

NM_005477.3

p.R1044W

c.3130C>T

1 paper

NM_005477.3

p.R1044Q

c.3131G>A

4 papers

NM_005477.3

p.A1045V

c.3134C>T

1 paper

NM_005477.3

p.L1053F

c.3157C>T

1 paper

NM_005477.3

p.P1028A

c.3082C>G

1 paper

NM_005477.3

p.S1026N

c.3077G>A

1 paper

NM_005477.3

p.L1025I

c.3073C>A

1 paper

NM_005477.3

p.P1061L

c.3182C>T

2 papers

NM_005477.3

p.R1022L

c.3065G>T

1 paper

NM_005477.3

p.R1022Q

c.3065G>A

1 paper

NM_005477.3

p.P1062L

c.3185C>T

1 paper

NM_005477.3

p.R1022*

c.3064C>T