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.F910L

c.2728T>C

Surrounding Variants

2 papers

NM_005477.3

p.F910L

c.2730C>G

3 papers

NM_005477.3

p.F910L

c.2730C>A

2 papers

NM_005477.3

p.G906R

c.2716G>C

2 papers

NM_005477.3

p.G906R

c.2716G>A

1 paper

NM_005477.3

p.A901G

c.2702C>G

1 paper

NM_005477.3

p.D922N

c.2764G>A

1 paper

NM_005477.3

p.A897A

c.2691T>C

1 paper

NM_005477.3

p.P893fs

c.2677_2678fs

1 paper

NM_005477.3

p.S891delFs

c.2673delC

2 papers

NM_005477.3

p.P890L

c.2669C>T

5 papers

NM_005477.3

p.R934C

c.2800C>T

1 paper

NM_005477.3

p.R934H

c.2801G>A