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.S790C

c.2369C>G

Surrounding Variants

1 paper

NM_005477.3

p.T789I

c.2366C>T

1 paper

NM_005477.3

p.T789A

c.2365A>G

1 paper

NM_005477.3

p.A792S

c.2374G>T

1 paper

NM_005477.3

p.A792A

c.2376C>T

2 papers

NM_005477.3

p.A787S

c.2359G>T

1 paper

NM_005477.3

p.A785fs

c.2353_2354fs

1 paper

NM_005477.3

p.R800C

c.2398C>T

1 paper

NM_005477.3

p.Q779_A780insFs

c.2337_2338ins5

1 paper

NM_005477.3

p.L777R

c.2330T>G

2 papers

NM_005477.3

p.P776L

c.2327C>T

1 paper

NM_005477.3

p.R807H

c.2420G>A

1 paper

NM_005477.3

p.V772I

c.2314G>A