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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UMAD1

Variant:p.S113P

UMAD1

7p21.3 (UCSC)GTEx

3 papers

Pfam Domains

UBAP1-MVB12_assocaa 1–136UCSCUBAP1-MVB12-associated domain-containing protein

Gene Aliases

HGNC Name

UBAP1-MVB12-associated (UMA) domain containing 1

HGNC Previous Symbols

RPA3-AS1; RPA3OS

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr7:7877461 T>C

NM_001302348.2

p.S113P

c.337T>C

UBAP1-MVB12_assoc

Exome: 0.4% (AC=2052, hom=5)Genome: 0.3% (AC=456, hom=3)49 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."