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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CACNG8

Variant:p.D42Y

CACNG8

50 papers

RefSeq Summary

The protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a fun...

Pfam Domains

PMP22_Claudinaa 17–223UCSCPMP-22/EMP/MP20/Claudin family

Gene Aliases

HGNC Name

calcium voltage-gated channel auxiliary subunit gamma 8

HGNC Previous Name

calcium channel, voltage-dependent, gamma subunit 8

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr19:53963266 G>T

NM_031895.6

p.D42Y

c.124G>T

PMP22_Claudin

exact variant not in gnomAD9 overlapping SVs

Surrounding Variants

1 paper

chr19:53963261 G>A

NM_031895.6

p.S40N

c.119G>A

PMP22_Claudin

exact variant not in gnomAD9 overlapping SVs

1 paper

chr19:53963284 C>A

NM_031895.6

p.R48S

c.142C>A

PMP22_Claudin

Exome: 0.0% (AC=1, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr19:53963320 G>A

NM_031895.6

p.G60S

c.178G>A

PMP22_Claudin

Exome: 0.0% (AC=94, hom=0)Genome: 0.0% (AC=6, hom=0)9 overlapping SVs

1 paper

chr19:53963325 C>T

NM_031895.6

p.G61G

c.183C>T

PMP22_Claudin

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)9 overlapping SVs

1 paper

chr19:53963351 G>A

NM_031895.6

p.G70D

c.209G>A

PMP22_Claudin

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)9 overlapping SVs

1 paper

chr19:53963356 G>A

NM_031895.6

p.G72S

c.214G>A

PMP22_Claudin

Exome: 0.0% (AC=27, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr19:53963167 G>A

NM_031895.6

p.E9K

c.25G>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr19:53963395 T>A

NM_031895.6

p.S85T

c.253T>A

PMP22_Claudin

exact variant not in gnomAD9 overlapping SVs

1 paper

chr19:53963434 C>T

NM_031895.6

p.G95Splc

c.283+9C>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a9 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."