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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FAM76A

Variant:p.S209del1

FAM76A

1p35.3 (UCSC)GTEx

17 papers

Pfam Domains

FAM76aa 4–297UCSCFAM76 protein

Gene Aliases

HGNC Name

family with sequence similarity 76 member A

HGNC Alias Symbol

MGC34648

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr1:27755219 CTCA>C

NM_152660.3

p.S209del1

c.625_627delTCA

exact variant not in gnomAD110 overlapping SVs

Surrounding Variants

chr1:27749135 A>T

NM_152660.3

p.I194F

c.580A>T

exact variant not in gnomAD110 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."