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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FAM53A

Variant:p.E22*

FAM53A

4p16.3 (UCSC)OMIM GTEx

33 papers

Pfam Domains

FAM53aa 1–294UCSCFamily of FAM53

Gene Aliases

HGNC Name

family with sequence similarity 53 member A

HGNC Alias Symbol

DNTNP

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr4:1668678 C>A

NM_001174070.3

p.E22*

c.64G>T

exact variant not in gnomAD11 overlapping SVs

Surrounding Variants

chr4:1668732 G>C

NM_001174070.3

p.L4V

c.10C>G

Exome: 0.0% (AC=30, hom=1)Genome: 0.0% (AC=8, hom=0)11 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."