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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ISM1

Variant:p.S27P

ISM1

20p12.1 (UCSC)OMIM GTEx

43 papers

Pfam Domains

TSP_1aa 221–261UCSCThrombospondin type 1 domain

AMOPaa 293–435UCSCAMOP domain

Gene Aliases

HGNC Name

isthmin 1

HGNC Previous Symbol

C20orf82

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr20:13221855 T>C

NM_080826.2

p.S27P

c.79T>C

Exome: 0.0% (AC=198, hom=2)Genome: 0.0% (AC=14, hom=0)13 overlapping SVs

Surrounding Variants

chr20:13221789 G>C

NM_080826.2

p.A5P

c.13G>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a13 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."