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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ERICH1

Variant:p.S23_G24delFs

ERICH1

8p23.3 (UCSC)GTEx

45 papers

Pfam Domains

ERICH1_Caa 334–437UCSCGlutamate-rich protein 1 C-terminal domain

Gene Aliases

HGNC Name

glutamate rich 1

HGNC Previous Name

glutamate-rich 1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr8:715958 GCCAC>G

NM_207332.3

p.S23_G24delFs

c.68_71del4

exact variant not in gnomAD17 overlapping SVs

Surrounding Variants

chr8:715927 C>T

NM_207332.3

p.V35I

c.103G>A

Exome: 0.0% (AC=209, hom=0)Genome: 0.0% (AC=16, hom=0)17 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."