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.E625*

c.1873G>T

Surrounding Variants

1 paper

NM_005477.3

p.G629S

c.1885G>A

1 paper

NM_005477.3

p.G619G

c.1857G>A

1 paper

NM_005477.3

p.P618T

c.1852C>A

1 paper

NM_005477.3

p.I635F

c.1903A>T

1 paper

NM_005477.3

p.E614K

c.1840G>A

1 paper

NM_005477.3

p.F613Y

c.1838T>A

1 paper

NM_005477.3

p.R612H

c.1835G>A

1 paper

NM_005477.3

p.R612C

c.1834C>T

2 papers

NM_005477.3

p.V639M

c.1915G>A

2 papers

NM_005477.3

p.V642M

c.1924G>A

1 paper

NM_005477.3

p.M607T

c.1820T>C

1 paper

NM_005477.3

p.M607V

c.1819A>G