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.Q316*

c.946C>T

Surrounding Variants

1 paper

NM_020897.3

p.G321G

c.963C>T

1 paper

NM_020897.3

p.V325I

c.973G>A

1 paper

NM_020897.3

p.A305A

c.915C>T

1 paper

NM_020897.3

p.A346G

c.1037C>G

1 paper

NM_020897.3

p.S352F

c.1055C>T

1 paper

NM_020897.3

p.R357W

c.1069C>T

1 paper

NM_020897.3

p.H263D

c.787C>G

1 paper

NM_020897.3

p.F373F

c.1119C>T

1 paper

NM_020897.3

p.H374Y

c.1120C>T

1 paper

NM_020897.3

p.R383C

c.1147C>T

1 paper

NM_020897.3

p.R383H

c.1148G>A

1 paper

NM_020897.3

p.H239N

c.715C>A