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.G1169R

c.3505G>C

Surrounding Variants

1 paper

NM_005477.3

p.G1169R

c.3505G>A

2 papers

NM_005477.3

p.F1168_G1169delFs

c.3502_3505del4

2 papers

NM_005477.3

p.F1168fs

c.3502_3503fs

1 paper

NM_005477.3

p.L1167F

c.3501G>C

1 paper

NM_005477.3

p.S1166fs

c.3496_3497fs

1 paper

NM_005477.3

p.P1164A

c.3490C>G

2 papers

NM_005477.3

p.P1163H

c.3488C>A

2 papers

NM_005477.3

p.P1163T

c.3487C>A

1 paper

NM_005477.3

p.S1160F

c.3479C>T

1 paper

NM_005477.3

p.S1158L

c.3473C>T

1 paper

NM_005477.3

p.S1157S

c.3471C>G

1 paper

NM_005477.3

p.S1157T

c.3469T>A