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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SUPT3H

Variant:p.R88H

SUPT3H

6p21.1 (UCSC)OMIM GTEx

41 papers

Pfam Domains

TFIID-18kDaaa 24–116UCSCTranscription initiation factor IID, 18kD subunit

Gene Aliases

HGNC Name

SPT3 homolog, SAGA and STAGA complex component

HGNC Alias Symbols

SPT3; SPT3L

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr6:45020556 C>T

NM_003599.4

p.R88H

c.263G>A

Exome: 0.0% (AC=26, hom=0)Genome: 0.0% (AC=3, hom=0)66 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."