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

2 papers

NM_005477.3

p.A507V

c.1520C>T

Surrounding Variants

1 paper

NM_005477.3

p.A507T

c.1519G>A

1 paper

NM_005477.3

p.Y506Y

c.1518C>T

1 paper

NM_005477.3

p.A503V

c.1508C>T

1 paper

NM_005477.3

p.V501M

c.1501G>A

1 paper

NM_005477.3

p.Q518*

c.1552C>T

3 papers

NM_005477.3

p.L520L

c.1558C>T

1 paper

NM_005477.3

p.D521H

c.1561G>C

2 papers

NM_005477.3

p.V492A

c.1475T>C

2 papers

NM_005477.3

p.V492D

c.1475T>A

4 papers

NM_005477.3

p.V492F

c.1474G>T

1 paper

NM_005477.3

p.Q518_S522delFs

c.1552_1565del14

3 papers

NM_005477.3

p.D491N

c.1471G>A