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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ZACN

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 51 variants

7 papers

chr17:76081716 C>T

NM_180990.4

p.Q281*

c.841C>T

Exome: 17.5% (AC=255313, hom=24388)Genome: 16.9% (AC=25764, hom=2610)6 overlapping SVs

2 papers

chr17:76079887 G>A

NM_180990.4

p.L89_S90Splc

c.268-1G>A

Neur_chan_LBD

Exome: 0.0% (AC=0, hom=0)Genome: n/a6 overlapping SVs

2 papers

chr17:76080334 G>A

NM_180990.4

p.A152T

c.454G>A

Neur_chan_LBD

Exome: 61.4% (AC=897216, hom=277240)Genome: 60.0% (AC=91157, hom=27564)6 overlapping SVs

1 paper

chr17:76079304 G>T

NM_180990.4

p.G14W

c.40G>T

Exome: 0.0% (AC=32, hom=0)Genome: 0.0% (AC=5, hom=0)6 overlapping SVs

1 paper

chr17:76079449 C>A

NM_180990.4

p.S36S

c.108C>A

exact variant not in gnomAD6 overlapping SVs

1 paper

chr17:76079464 C>A

NM_180990.4

p.N41K

c.123C>A

Neur_chan_LBD

exact variant not in gnomAD6 overlapping SVs

1 paper

chr17:76079464 C>G

NM_180990.4

p.N41K

c.123C>G

Neur_chan_LBD

exact variant not in gnomAD6 overlapping SVs

1 paper

chr17:76079493 A>T

NM_180990.4

p.Q51L

c.152A>T

Neur_chan_LBD

exact variant not in gnomAD6 overlapping SVs

1 paper

chr17:76079500 G>C

NM_180990.4

p.P53P

c.159G>C

Neur_chan_LBD

Exome: 0.0% (AC=1, hom=0)Genome: n/a6 overlapping SVs

1 paper

chr17:76079521 G>A

NM_180990.4

p.L60L

c.180G>A

Neur_chan_LBD

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)6 overlapping SVs

1 paper

chr17:76079525 G>A

NM_180990.4

p.V62M

c.184G>A

Neur_chan_LBD

Exome: 0.0% (AC=23, hom=0)Genome: 0.0% (AC=5, hom=0)6 overlapping SVs

1 paper

chr17:76079561 G>A

NM_180990.4

p.V74M

c.220G>A

Neur_chan_LBD

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=1, hom=0)6 overlapping SVs

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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."