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

15 papers

NM_005477.3

p.K530N

c.1590G>T

Surrounding Variants

15 papers

NM_005477.3

p.K530N

c.1590G>C

1 paper

NM_005477.3

p.K530_Y531Splc

c.1590+7C>G

1 paper

NM_005477.3

p.Y527F

c.1580A>T

8 papers

NM_005477.3

p.R524Q

c.1571G>A

1 paper

NM_005477.3

p.S519_S523delFs

c.1555_1568del14

1 paper

NM_005477.3

p.Q518_S522delFs

c.1552_1565del14

1 paper

NM_005477.3

p.D521H

c.1561G>C

3 papers

NM_005477.3

p.L520L

c.1558C>T

1 paper

NM_005477.3

p.Q518*

c.1552C>T

2 papers

NM_005477.3

p.A507V

c.1520C>T

1 paper

NM_005477.3

p.A507T

c.1519G>A

1 paper

NM_005477.3

p.Y506Y

c.1518C>T