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.P998S

c.2992C>T

Surrounding Variants

1 paper

NM_005477.3

p.R999W

c.2995C>T

1 paper

NM_005477.3

p.R999Q

c.2996G>A

2 papers

NM_005477.3

p.T993M

c.2978C>T

1 paper

NM_005477.3

p.A1010G

c.3029C>G

1 paper

NM_005477.3

p.G1012A

c.3035G>C

1 paper

NM_005477.3

p.G980V

c.2939G>T

1 paper

NM_005477.3

p.G980A

c.2939G>C

2 papers

NM_005477.3

p.G980R

c.2938G>C

2 papers

NM_005477.3

p.G980R

c.2938G>A

1 paper

NM_005477.3

p.R1022*

c.3064C>T

2 papers

NM_005477.3

p.R1022L

c.3065G>T

1 paper

NM_005477.3

p.R1022Q

c.3065G>A