Varaico: Literature-Extracted Genetic Variants

Gene:ZACN
Variant:p.Y79H

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.Y79H
c.235T>C
Surrounding Variants
1 paper
NM_180990.4
p.V74_D75Splc
c.223-1G>C
1 paper
NM_180990.4
p.L85Q
c.254T>A
1 paper
NM_180990.4
p.L89_S90Splc
c.267+15C>T
1 paper
NM_180990.4
p.V74_D75Splc
c.222+1G>C
1 paper
NM_180990.4
p.V74M
c.220G>A
1 paper
NM_180990.4
p.L89_S90Splc
c.268-2A>G
2 papers
NM_180990.4
p.L89_S90Splc
c.268-1G>A
1 paper
NM_180990.4
p.R95C
c.283C>T
1 paper
NM_180990.4
p.V62M
c.184G>A
1 paper
NM_180990.4
p.L60L
c.180G>A
1 paper
NM_180990.4
p.P53P
c.159G>C
1 paper
NM_180990.4
p.Q51L
c.152A>T
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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."