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

1–12 of 450 variants

42 papers

NM_005477.3

p.D553N

c.1657G>A

37 papers

NM_005477.3

p.G482R

c.1444G>A

36 papers

NM_005477.3

p.G482R

c.1444G>C

30 papers

NM_005477.3

p.S672R

c.2016C>G

30 papers

NM_005477.3

p.S672R

c.2016C>A

29 papers

NM_005477.3

p.S672R

c.2014A>C

27 papers

NM_005477.3

p.G480R

c.1438G>C

22 papers

NM_005477.3

p.A485V

c.1454C>T

18 papers

NM_005477.3

p.Y481H

c.1441T>C

18 papers

NM_005477.3

p.V759I

c.2275G>A

18 papers

NM_005477.3

p.P883R

c.2648C>G

16 papers

NM_005477.3

p.A414G

c.1241C>G