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

2 papers

NM_005477.3

p.V1065A

c.3194T>C

Surrounding Variants

2 papers

NM_005477.3

p.V1065F

c.3193G>T

1 paper

NM_005477.3

p.P1066H

c.3197C>A

1 paper

NM_005477.3

p.Q1067P

c.3200A>C

1 paper

NM_005477.3

p.P1063T

c.3187C>A

1 paper

NM_005477.3

p.R1068C

c.3202C>T

5 papers

NM_005477.3

p.R1068H

c.3203G>A

1 paper

NM_005477.3

p.P1062L

c.3185C>T

2 papers

NM_005477.3

p.R1069W

c.3205C>T

1 paper

NM_005477.3

p.R1069Q

c.3206G>A

1 paper

NM_005477.3

p.P1061L

c.3182C>T

6 papers

NM_005477.3

p.G1070D

c.3209G>A

8 papers

NM_005477.3

p.G1077S

c.3229G>A