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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SECISBP2L

Variant:p.R3insFs

SECISBP2L

15q21.1 (UCSC)OMIM GTEx

54 papers

Pfam Domains

Ribosomal_L7Aeaa 702–804UCSCRibosomal protein L7Ae/L30e/S12e/Gadd45 family

Gene Aliases

HGNC Name

SECIS binding protein 2 like

HGNC Alias Symbol

KIAA0256

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr15:49046291 T>TC

NM_001193489.2

p.R3insFs

c.8dupG

exact variant not in gnomAD11 overlapping SVs

Surrounding Variants

chr15:49037631 T>C

NM_001193489.2

p.I55V

c.163A>G

Exome: 0.1% (AC=1032, hom=14)Genome: 0.1% (AC=78, hom=1)10 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."