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.L421R

c.1262T>G

Surrounding Variants

1 paper

NM_005477.3

p.I418I

c.1254C>A

1 paper

NM_005477.3

p.R417C

c.1249C>T

1 paper

NM_005477.3

p.V415V

c.1245G>T

16 papers

NM_005477.3

p.A414G

c.1241C>G

3 papers

NM_005477.3

p.L411V

c.1231C>G

1 paper

NM_005477.3

p.D432H

c.1294G>C

1 paper

NM_005477.3

p.Y409F

c.1226A>T

1 paper

NM_005477.3

p.I404fs

c.1210_1211fs

1 paper

NM_005477.3

p.P446L

c.1337C>T

1 paper

NM_005477.3

p.D448H

c.1342G>C

1 paper

NM_005477.3

p.D448G

c.1343A>G

1 paper

NM_005477.3

p.C449S

c.1345T>A