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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STAC

Variant:p.G14E

STAC

3p22.3-p22.2 (UCSC)OMIM GTEx

40 papers

Pfam Domains

C1_1aa 108–162UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

STAC2_u1aa 115–226UCSCUnstructured on SH3 and cysteine-rich domain-containing protein 2

STAC2_u1aa 165–286UCSCUnstructured on SH3 and cysteine-rich domain-containing protein 2

SH3_1aa 230–275UCSCSH3 domain

SH3_2aa 287–341UCSCVariant SH3 domain

Gene Aliases

HGNC Name

SH3 and cysteine rich domain

HGNC Alias Symbol

STAC1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr3:36380684 G>A

NM_003149.3

p.G14E

c.41G>A

Exome: 0.1% (AC=1504, hom=1)Genome: 0.1% (AC=161, hom=0)60 overlapping SVs

Surrounding Variants

chr3:36380717 C>T

NM_003149.3

p.P25L

c.74C>T

Exome: 0.0% (AC=167, hom=0)Genome: 0.0% (AC=13, hom=0)60 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."