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.E695_M699insFs

c.2085_2097dup13

Surrounding Variants

1 paper

NM_005477.3

p.F703Y

c.2108T>A

3 papers

NM_005477.3

p.E695*

c.2083G>T

5 papers

NM_005477.3

p.N690S

c.2069A>G

3 papers

NM_005477.3

p.N688S

c.2063A>G

1 paper

NM_005477.3

p.N688T

c.2063A>C

1 paper

NM_005477.3

p.R713H

c.2138G>A

1 paper

NM_005477.3

p.I714fs

c.2140_2141fs

1 paper

NM_005477.3

p.I714insFs

c.2140dupA

1 paper

NM_005477.3

p.G715Splc

c.2143+1G>T

1 paper

NM_005477.3

p.C679Y

c.2036G>A

1 paper

NM_005477.3

p.A675T

c.2023G>A

2 papers

NM_005477.3

p.V673L

c.2017G>T