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

4 papers

NM_005477.3

p.A485E

c.1454C>A

Surrounding Variants

22 papers

NM_005477.3

p.A485V

c.1454C>T

2 papers

NM_005477.3

p.A485A

c.1455G>A

4 papers

NM_005477.3

p.V487M

c.1459G>A

1 paper

NM_005477.3

p.R483_V487del0

c.1447_1461del15

2 papers

NM_005477.3

p.G482A

c.1445G>C

1 paper

NM_005477.3

p.G482E

c.1445G>A

36 papers

NM_005477.3

p.G482R

c.1444G>C

37 papers

NM_005477.3

p.G482R

c.1444G>A

18 papers

NM_005477.3

p.Y481H

c.1441T>C

2 papers

NM_005477.3

p.G480A

c.1439G>C

1 paper

NM_005477.3

p.I479_S490delFs

c.1435_1468del34

4 papers

NM_005477.3

p.G480C

c.1438G>T