Varaico: Literature-Extracted Genetic Variants

Gene:ZACN
Variant:p.T223_L224Splc

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.T223_L224Splc
c.669+7C>G
Surrounding Variants
1 paper
NM_180990.4
p.T223M
c.668C>T
1 paper
NM_180990.4
p.Q221*
c.661C>T
1 paper
NM_180990.4
p.L216P
c.647T>C
1 paper
NM_180990.4
p.V196fs
c.586_587fs
1 paper
NM_180990.4
p.V196_S197delFs
c.586_589del4
1 paper
NM_180990.4
p.E184K
c.550G>A
1 paper
NM_180990.4
p.L237F
c.709C>T
1 paper
NM_180990.4
p.R257Q
c.770G>A
1 paper
NM_180990.4
p.L269_L275ins2
c.805_825dup21
1 paper
NM_180990.4
p.L275_H276insFs
c.825_826insA
7 papers
NM_180990.4
p.Q281*
c.841C>T
1 paper
NM_180990.4
p.C289S
c.865T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."