Varaico: Literature-Extracted Genetic Variants

Gene:SH2D2A
Variant:p.N52S
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SH2D2A

NM_003975.4:p.N52S

Associated Papers

Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease.

Saevarsdottir S et al.

Nature Communications, 2024

38982041 (PubMed )
Supplement: 41467_2024_50007_MOESM4_ESM.xlsx › SD3

A simple and efficient workflow for generation of knock-in mutations in Jurkat T cells using CRISPR/Cas9.

Borowicz P et al.

Scandinavian Journal of Immunology, 2020

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Khan MJ et al.

Scientific Reports, 2018

30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 1._nonsynonymous_variants

Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

Maguire SL et al.

The Journal of Pathology, 2016

27512948 (PubMed )
Supplement: PATH-240-315-s015.xlsx › Table_S2

Kinome-wide decoding of network-attacking mutations rewiring cancer signaling.

Creixell P et al.

Cell, 2015

26388441 (PubMed )
Supplement: mmc10.zip › DataFileS2_ReKINectOutputES2.xlsx › ES2.standardfilteringd10_Mut_Re

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00010-Table_S13.xlsx › Sheet1

Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Ilyas M et al.

Bmc Genomics, 2015

25887915 (PubMed )
Supplement: 12864_2015_1290_MOESM7_ESM.xlsx › Sheet1

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
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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."