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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC44A1

Variant:p.L34delFs

SLC44A1

9q31.1-q31.2 (UCSC)OMIM PanelApp GTEx

63 papers

Pfam Domains

Choline_transpoaa 294–606UCSCPlasma-membrane choline transporter

Gene Aliases

HGNC Name

solute carrier family 44 member 1

HGNC Previous Symbol

CDW92

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr9:105299283 CT>C

NM_080546.5

p.L34delFs

c.101delT

exact variant not in gnomAD19 overlapping SVs

Surrounding Variants

chr9:105299248 A>C

NM_080546.5

p.E22A

c.65A>C

exact variant not in gnomAD19 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."