Varaico: Literature-Extracted Genetic Variants

HCN3

94 papers

RefSeq Summary

This gene encodes a multi-pass membrane protein that functions as a voltage gated cation channel. The encoded protein is a member of a family of closely related cyclic adenosine monophosphate-binding ...

Pfam Domains

Ion_trans_Naa 49–92UCSCIon transport protein N-terminal

Ion_transaa 93–358UCSCIon transport protein

cNMP_bindingaa 446–529UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

hyperpolarization activated cyclic nucleotide gated potassium channel 3

HGNC Alias Symbol

KIAA1535

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020897.3

p.E235G

c.704A>G

Surrounding Variants

1 paper

NM_020897.3

p.E236_I237Splc

c.708+2T>G

1 paper

NM_020897.3

p.L222P

c.665T>C

1 paper

NM_020897.3

p.R220R

c.660G>A

1 paper

NM_020897.3

p.L207P

c.620T>C

1 paper

NM_020897.3

p.L188V

c.562C>G

1 paper

NM_020897.3

p.L177L

c.531C>T

1 paper

NM_020897.3

p.R170C

c.508C>T

1 paper

NM_020897.3

p.T166T

c.498G>A

1 paper

NM_020897.3

p.T166M

c.497C>T

1 paper

NM_020897.3

p.D140_V142delFs

c.418_425del8

1 paper

NM_020897.3

p.L138L

c.414A>G

1 paper

NM_020897.3

p.V131L

c.391G>C