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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BLTP3B

Variant:p.A2T

BLTP3B

12q23.1 (UCSC)OMIM GTEx

71 papers

Pfam Domains

BLTP3A_Baa 1–1462UCSCBridge-like lipid transfer protein family member 3A/B

Gene Aliases

HGNC Name

bridge-like lipid transfer protein family member 3B

HGNC Previous Symbol

UHRF1BP1L

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr12:100142632 C>T

NM_015054.2

p.A2T

c.4G>A

Exome: 0.0% (AC=5, hom=0)Genome: n/a29 overlapping SVs

Surrounding Variants

chr12:100142633 C>CA

NM_015054.2

p.M1insFs

c.2_3insT

exact variant not in gnomAD29 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."