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

5 papers

NM_005477.3

p.R934C

c.2800C>T

Surrounding Variants

1 paper

NM_005477.3

p.R934H

c.2801G>A

1 paper

NM_005477.3

p.S935Y

c.2804C>A

1 paper

NM_005477.3

p.P941S

c.2821C>T

1 paper

NM_005477.3

p.P943S

c.2827C>T

1 paper

NM_005477.3

p.A944V

c.2831C>T

4 papers

NM_005477.3

p.P945S

c.2833C>T

1 paper

NM_005477.3

p.D922N

c.2764G>A

1 paper

NM_005477.3

p.A948delFs

c.2842delC

1 paper

NM_005477.3

p.A948fs

c.2842_2843fs

1 paper

NM_005477.3

p.R949W

c.2845C>T

2 papers

NM_005477.3

p.R949Q

c.2846G>A

3 papers

NM_005477.3

p.G953R

c.2857G>C