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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CAVIN3

CAVIN3

51 papers

RefSeq Summary

The protein encoded by this gene was identified as a binding protein of the protein kinase C, delta (PRKCD). The expression of this gene in cultured cell lines is strongly induced by serum starvation....

Pfam Domains

PTRF_SDPRaa 19–216UCSCPTRF/SDPR family

Gene Aliases

HGNC Name

caveolae associated protein 3

HGNC Previous Symbol

PRKCDBP

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 50 variants

3 papers

chr11:6320454 C>G

NM_145040.3

p.R8P

c.23G>C

Exome: 97.0% (AC=1340839, hom=650727)Genome: 94.7% (AC=144215, hom=68420)9 overlapping SVs

2 papers

chr11:6320167 C>T

NM_145040.3

p.A104T

c.310G>A

PTRF_SDPR

Exome: 2.1% (AC=30594, hom=389)Genome: 1.7% (AC=2628, hom=45)7 overlapping SVs

2 papers

chr11:6319476 A>G

NM_145040.3

p.L158P

c.473T>C

PTRF_SDPR

Exome: 54.7% (AC=795125, hom=219133)Genome: 51.5% (AC=78313, hom=20612)8 overlapping SVs

1 paper

chr11:6320475 A>T

NM_145040.3

p.M1K

c.2T>A

Exome: 0.0% (AC=21, hom=0)Genome: 0.0% (AC=2, hom=0)9 overlapping SVs

1 paper

chr11:6320424 C>T

NM_145040.3

p.G18D

c.53G>A

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=10, hom=0)9 overlapping SVs

1 paper

chr11:6320406 G>A

NM_145040.3

p.T24M

c.71C>T

PTRF_SDPR

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

1 paper

chr11:6320397 G>A

NM_145040.3

p.T27I

c.80C>T

PTRF_SDPR

Exome: 0.0% (AC=8, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr11:6320397 G>T

NM_145040.3

p.T27N

c.80C>A

PTRF_SDPR

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=1, hom=0)9 overlapping SVs

1 paper

chr11:6320377 A>G

NM_145040.3

p.S34P

c.100T>C

PTRF_SDPR

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

1 paper

chr11:6320358 C>A

NM_145040.3

p.R40L

c.119G>T

PTRF_SDPR

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

1 paper

chr11:6320351 C>A

NM_145040.3

p.R42R

c.126G>T

PTRF_SDPR

Exome: 0.0% (AC=3, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr11:6320343 C>T

NM_145040.3

p.G45D

c.134G>A

PTRF_SDPR

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."