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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:REPS1

Variant:p.S25G

REPS1

6q24.1 (UCSC)OMIM GTEx

41 papers

Pfam Domains

EHaa 6–109UCSCEH domain

EHaa 281–378UCSCEH domain

Gene Aliases

HGNC Name

RALBP1 associated Eps domain containing 1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr6:138987610 T>C

NM_001286611.2

p.S25G

c.73A>G

Exome: 0.0% (AC=10, hom=0)Genome: n/a77 overlapping SVs

Surrounding Variants

chr6:138987615 A>G

NM_001286611.2

p.I23T

c.68T>C

Exome: 0.0% (AC=30, hom=0)Genome: 0.0% (AC=3, hom=0)77 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."