Varaico: Literature-Extracted Genetic Variants

Gene:ZACN
Variant:p.C289S

ZACN

48 papers

RefSeq Summary

LGICZ1 is a zinc-activated ligand-gated ion channel that defines a new subgroup of the cysteine-loop superfamily of ligand-gated ion channels (Davies et al., 2003 [PubMed 12381728]).[supplied by OMIM,...

Pfam Domains

Neur_chan_LBDaa 40–214UCSCNeurotransmitter-gated ion-channel ligand binding domain

Gene Aliases

HGNC Name

zinc activated ion channel

HGNC Previous Symbol

LGICZ1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_180990.4
p.C289S
c.865T>A
Surrounding Variants
1 paper
NM_180990.4
p.C289S
c.866G>C
1 paper
NM_180990.4
p.L292M
c.874C>A
7 papers
NM_180990.4
p.Q281*
c.841C>T
1 paper
NM_180990.4
p.L275_H276insFs
c.825_826insA
1 paper
NM_180990.4
p.L269_L275ins2
c.805_825dup21
1 paper
NM_180990.4
p.R257Q
c.770G>A
1 paper
NM_180990.4
p.F297L
c.889T>C
1 paper
NM_180990.4
p.F297L
c.891C>A
1 paper
NM_180990.4
p.F297L
c.891C>G
1 paper
NM_180990.4
p.L237F
c.709C>T
1 paper
NM_180990.4
p.L304F
c.910C>T
1 paper
NM_180990.4
p.S307insFs
c.919_920insC
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