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.R583Q

c.1748G>A

Surrounding Variants

1 paper

NM_020897.3

p.T592A

c.1774A>G

1 paper

NM_020897.3

p.G593A

c.1778G>C

1 paper

NM_020897.3

p.G567V

c.1700G>T

1 paper

NM_020897.3

p.P605P

c.1815A>T

1 paper

NM_020897.3

p.H608R

c.1823A>G

1 paper

NM_020897.3

p.A609V

c.1826C>T

1 paper

NM_020897.3

p.I553V

c.1657A>G

1 paper

NM_020897.3

p.S618F

c.1853C>T

2 papers

NM_020897.3

p.R628W

c.1882C>T

4 papers

NM_020897.3

p.P630L

c.1889C>T

1 paper

NM_020897.3

p.L631L

c.1891C>T

1 paper

NM_020897.3

p.L633L

c.1899C>G