Varaico: Literature-Extracted Genetic Variants

Gene:SOHLH1
Variant:p.P269S
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SOHLH1

NM_001101677.2:p.P269S

Associated Papers

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

El-Gazzar A et al.

Embo Molecular Medicine, 2023

36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant

ATR represents a therapeutic vulnerability in clear cell renal cell carcinoma.

Seidel P et al.

Jci Insight, 2022

36413415 (PubMed )
Supplement: jciinsight-7-156087-s060.xlsx › 786O

Transcription factor SOHLH1 potentially associated with primary ovarian insufficiency.

Zhao S et al.

Fertility and Sterility, 2015

Mutations in SOHLH1 gene associate with nonobstructive azoospermia.

Choi Y et al.

Human Mutation, 2010

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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."