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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VSTM2L

Variant:p.A92V

VSTM2L

20q11.23 (UCSC)OMIM GTEx

11 papers

Pfam Domains

V-setaa 45–163UCSCImmunoglobulin V-set domain

Gene Aliases

HGNC Name

V-set and transmembrane domain containing 2 like

HGNC Previous Symbol

C20orf102

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr20:37931788 C>T

NM_080607.3

p.A92V

c.275C>T

Exome: 0.6% (AC=8920, hom=155)Genome: 0.5% (AC=736, hom=7)10 overlapping SVs

Surrounding Variants

chr20:37930566 A>C

NM_080607.3

p.A41Splc

c.122-1069A>C

Exome: n/aGenome: 0.0% (AC=1, hom=0)9 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."