Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP10-6
Variant:p.C261*
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KRTAP10-6

NM_198688.3:p.C261*

Associated Papers

Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.

Rubino E et al.

Alzheimer's Research & Therapy, 2025

39810256 (PubMed )
Supplement: 13195_2024_1661_MOESM2_ESM.xlsx › Suppl._Table_2

Polymorphic pseudogenes in the human genome - a comprehensive assessment.

Lopes-Marques M et al.

Human Genetics, 2024

39488654 (PubMed )
Supplement: 439_2024_2715_MOESM7_ESM.xlsx › Additional_table_1

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Codon-level co-occurrences of germline variants and somatic mutations in cancer are rare but often lead to incorrect variant annotation and underestimated impact prediction.

Koire A et al.

Plos One, 2017

28350864 (PubMed )
Supplement: pone.0174766.s004.xlsx › Sheet1
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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."