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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TTC39B

Variant:p.E596A

TTC39B

9p22.3 (UCSC)OMIM GTEx

22 papers

Pfam Domains

Iml2-TPR_39aa 13–463UCSCIml2/Tetratricopeptide repeat protein 39

Iml2-TPR_39aa 140–598UCSCIml2/Tetratricopeptide repeat protein 39

TPR_8aa 493–517UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

tetratricopeptide repeat domain 39B

HGNC Previous Symbol

C9orf52

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr9:15172083 T>G

NM_152574.3

p.E596A

c.1787A>C

exact variant not in gnomAD18 overlapping SVs

Surrounding Variants

chr9:15177770 G>A

NM_152574.3

p.L524F

c.1570C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a19 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."