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

18 papers

NM_005477.3

p.Y481H

c.1441T>C

Surrounding Variants

2 papers

NM_005477.3

p.G480A

c.1439G>C

4 papers

NM_005477.3

p.G480C

c.1438G>T

36 papers

NM_005477.3

p.G482R

c.1444G>C

27 papers

NM_005477.3

p.G480R

c.1438G>C

37 papers

NM_005477.3

p.G482R

c.1444G>A

6 papers

NM_005477.3

p.G480S

c.1438G>A

2 papers

NM_005477.3

p.G482A

c.1445G>C

1 paper

NM_005477.3

p.G482E

c.1445G>A

1 paper

NM_005477.3

p.I479M

c.1437C>G

1 paper

NM_005477.3

p.I479S

c.1436T>G

1 paper

NM_005477.3

p.I479fs

c.1435_1436fs

3 papers

NM_005477.3

p.I479V

c.1435A>G