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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CCSER1

Variant:p.R596*

CCSER1

4q22.1 (UCSC)OMIM GTEx

87 papers

Gene Aliases

HGNC Name

coiled-coil serine rich protein 1

HGNC Previous Symbol

FAM190A

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr4:90628086 C>T

NM_001145065.2

p.R596*

c.1786C>T

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=2, hom=0)97 overlapping SVs

Surrounding Variants

chr4:90628165 G>T

NM_001145065.2

p.R622I

c.1865G>T

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)97 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."