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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SIMC1

Variant:p.F4Y

SIMC1

5q35.2 (UCSC)OMIM GTEx

40 papers

Gene Aliases

HGNC Name

SUMO interacting motifs containing 1

HGNC Previous Symbol

C5orf25

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr5:176238519 T>A

NM_001308195.2

p.F4Y

c.11T>A

Exome: 0.1% (AC=1603, hom=0)Genome: 17.7% (AC=17018, hom=0)12 overlapping SVs

Surrounding Variants

chr5:176238547 T>A

NM_001308195.2

p.S13S

c.39T>A

Exome: 0.3% (AC=3450, hom=2)Genome: 0.2% (AC=263, hom=0)12 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."