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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SCHIP1

Variant:p.E2*

SCHIP1

3q25.32-q25.33 (UCSC)OMIM GTEx

27 papers

Pfam Domains

SCHIP-1_Caa 228–457UCSCSchwannomin-interacting protein 1, C-terminal

Gene Aliases

HGNC Name

schwannomin interacting protein 1

HGNC Alias Symbol

SCHIP-1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr3:159273824 G>T

NM_014575.4

p.E2*

c.4G>T

exact variant not in gnomAD66 overlapping SVs

Surrounding Variants

chr3:159273849 C>T

NM_014575.4

p.T10M

c.29C>T

Exome: 0.0% (AC=254, hom=0)Genome: 0.0% (AC=18, hom=0)66 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."