Varaico: Literature-Extracted Genetic Variants

Gene:FAM185A
Variant:p.Y180D
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FAM185A

NM_001145269.2:p.Y180D

Associated Papers

Genetic analysis of non-syndromic peg lateralis using whole-exome sequencing.

Choi J et al.

Frontiers in Genetics, 2025

40881174 (PubMed )
Supplement: Table1.xlsx › supplementary_table_1

Chagas Disease Megaesophagus Patients Carrying Variant MRPS18B P260A Display Nitro-Oxidative Stress and Mitochondrial Dysfunction in Response to IFN-γ Stimulus.

Silva KDA et al.

Biomedicines, 2022

Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.

Shen Y et al.

Nature Communications, 2019

30683861 (PubMed )
Supplement: 41467_2018_8182_MOESM10_ESM.xls › PA

Oral Cavity Squamous Cell Carcinoma Xenografts Retain Complex Genotypes and Intertumor Molecular Heterogeneity.

Campbell KM et al.

Cell Reports, 2018

30134176 (PubMed )
Supplement: NIHMS1520774-supplement-Table_S2.xlsx › MASTER_VARIANTS

Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Raaijmakers MI et al.

Oncotarget, 2016

27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_3_early_met_1
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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."