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.K562M

c.1685A>T

Surrounding Variants

1 paper

NM_005477.3

p.Y559C

c.1676A>G

4 papers

NM_005477.3

p.S568T

c.1703G>C

3 papers

NM_005477.3

p.Y554F

c.1661A>T

42 papers

NM_005477.3

p.D553N

c.1657G>A

1 paper

NM_005477.3

p.E572D

c.1716G>T

1 paper

NM_005477.3

p.E572D

c.1716G>C

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.E575D

c.1725G>T

1 paper

NM_005477.3

p.E575D

c.1725G>C

1 paper

NM_005477.3

p.R578W

c.1732C>T

4 papers

NM_005477.3

p.D546N

c.1636G>A