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

3 papers

NM_005477.3

p.Y554F

c.1661A>T

Surrounding Variants

42 papers

NM_005477.3

p.D553N

c.1657G>A

4 papers

NM_005477.3

p.R550H

c.1649G>A

8 papers

NM_005477.3

p.R550C

c.1648C>T

1 paper

NM_005477.3

p.Y559C

c.1676A>G

1 paper

NM_005477.3

p.K562M

c.1685A>T

4 papers

NM_005477.3

p.D546N

c.1636G>A

2 papers

NM_005477.3

p.P545A

c.1633C>G

1 paper

NM_005477.3

p.P545T

c.1633C>A

3 papers

NM_005477.3

p.P544fs

c.1630_1631fs

6 papers

NM_005477.3

p.P544delFs

c.1631delG

1 paper

NM_005477.3

p.F540Y

c.1619T>A

4 papers

NM_005477.3

p.S568T

c.1703G>C