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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCARA5

Variant:p.M1delFs

SCARA5

8p21.1 (UCSC)OMIM GTEx

58 papers

Pfam Domains

Collagenaa 304–360UCSCCollagen triple helix repeat (20 copies)

Collagenaa 326–386UCSCCollagen triple helix repeat (20 copies)

SRCRaa 396–493UCSCScavenger receptor cysteine-rich domain

Gene Aliases

HGNC Name

scavenger receptor class A member 5

HGNC Alias Symbols

FLJ23907; MGC45780; NET33

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr8:27987613 CA>C

NM_173833.6

p.M1delFs

c.2delA

exact variant not in gnomAD16 overlapping SVs

Surrounding Variants

chr8:27987608 T>C

NM_173833.6

p.N3S

c.8A>G

Exome: 0.1% (AC=1569, hom=2)Genome: 0.1% (AC=152, hom=0)16 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."