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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLT1D1

Variant:p.R23Splc

GLT1D1

12q24.33 (UCSC)GTEx

27 papers

Pfam Domains

Glycos_transf_1aa 153–319UCSCGlycosyl transferases group 1

Gene Aliases

HGNC Name

glycosyltransferase 1 domain containing 1

HGNC Alias Symbol

FLJ31978

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr12:128861269 C>T

NM_001366886.1

p.R23Splc

c.68+7620C>T

exact variant not in gnomAD7 overlapping SVs

Surrounding Variants

chr12:128853601 C>T

NM_001366886.1

p.A7V

c.20C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a9 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."