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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CTDSPL

Variant:p.G3S

CTDSPL

3p22.2 (UCSC)OMIM GTEx

25 papers

Pfam Domains

NIFaa 107–267UCSCNLI interacting factor-like phosphatase

Gene Aliases

HGNC Name

CTD small phosphatase like

HGNC Alias Symbols

HYA22; SCP3; PSR1; RBSP3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr3:37862206 G>A

NM_001008392.2

p.G3S

c.7G>A

Exome: 0.0% (AC=3, hom=0)Genome: n/a62 overlapping SVs

Surrounding Variants

chr3:37862200 A>AT

NM_001008392.2

p.M1insFs

c.2dupT

exact variant not in gnomAD62 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."