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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:VSTM5

Variant:p.R27C

VSTM5

11q21 (UCSC)OMIM GTEx

10 papers

Pfam Domains

VSTM5_Caa 143–195UCSCVSTM5 C-terminal domain

Gene Aliases

HGNC Name

V-set and transmembrane domain containing 5

HGNC Previous Symbol

C11orf90

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr11:93850424 G>A

NM_001144871.2

p.R27C

c.79C>T

Exome: 3.1% (AC=43388, hom=742)Genome: 3.4% (AC=5246, hom=114)34 overlapping SVs

Surrounding Variants

chr11:93850451 G>A

NM_001144871.2

p.L18F

c.52C>T

Exome: 0.3% (AC=4670, hom=7)Genome: 0.2% (AC=271, hom=0)34 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."