Varaico: Literature-Extracted Genetic Variants

Gene:ABRAXAS1
Variant:p.R252Q
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ABRAXAS1

NM_139076.3:p.R252Q

Associated Papers

Morphological, immunohistochemical and molecular analysis of follicular dendritic cell sarcomas: L1CAM as a new diagnostic marker.

Schelbert S et al.

Histopathology, 2025

40289262 (PubMed )
Supplement: HIS-87-258-s001.zip › his15458-sup-0003-Supplementary_Table_2-4_revised_changes_highlighted.xlsx › Table_S2

A retrospective single-center pilot study of the genetic background of the transplanted kidney.

Novotna A et al.

Plos One, 2025

39777909 (PubMed )
Supplement: pone.0316192.s002.xlsx › List1

EMP3 sustains oncogenic EGFR/CDK2 signaling by restricting receptor degradation in glioblastoma.

Martija AA et al.

Acta Neuropathologica Communications, 2023

37936247 (PubMed )
Supplement: 40478_2023_1673_MOESM5_ESM.xlsx › 345002

Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.

Adamson AW et al.

Journal of Ovarian Research, 2023

37460928 (PubMed )
Supplement: 13048_2023_1234_MOESM2_ESM.xlsx › Table_S10__

Pathogenicity assessment of variants for breast cancer susceptibility genes based on BRCAness of tumor sample.

Yoshida R et al.

Cancer Science, 2021

33421217 (PubMed )
Supplement: CAS-112-1310-s003.xlsx › Table_S2

ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry.

Renault AL et al.

Plos One, 2016

Insights into blood lipids from rare variant discovery.

Schmidt EM et al.

Current Opinion in Genetics & Development, 2015

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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."