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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GALNTL6

Variant:p.P49P

GALNTL6

4q34.1 (UCSC)OMIM GTEx

58 papers

Pfam Domains

Glycos_transf_2aa 143–328UCSCGlycosyl transferase family 2

Ricin_B_lectinaa 454–582UCSCRicin-type beta-trefoil lectin domain

Gene Aliases

HGNC Name

polypeptide N-acetylgalactosaminyltransferase like 6

HGNC Alias Symbol

GalNAc-T6L

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr4:172229664 A>T

NM_001034845.3

p.P49P

c.147A>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a32 overlapping SVs

Surrounding Variants

chr4:172229758 C>T

NM_001034845.3

p.R81C

c.241C>T

Exome: 0.0% (AC=15, hom=0)Genome: n/a32 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."