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

5 papers

NM_005477.3

p.T822M

c.2465C>T

Surrounding Variants

1 paper

NM_005477.3

p.L826P

c.2477T>C

1 paper

NM_005477.3

p.G818S

c.2452G>A

1 paper

NM_005477.3

p.R828W

c.2482C>T

1 paper

NM_005477.3

p.Q830_S831insFs

c.2490_2491insT

5 papers

NM_005477.3

p.G811E

c.2432G>A

1 paper

NM_005477.3

p.S835F

c.2504C>T

1 paper

NM_005477.3

p.R807H

c.2420G>A

6 papers

NM_005477.3

p.S841L

c.2522C>T

1 paper

NM_005477.3

p.P842T

c.2524C>A

1 paper

NM_005477.3

p.R800C

c.2398C>T

2 papers

NM_005477.3

p.P846L

c.2537C>T

1 paper

NM_005477.3

p.A792A

c.2376C>T