Varaico: Literature-Extracted Genetic Variants

Gene:KRTAP5-4
Variant:p.G122D
Back to variants list

KRTAP5-4

NM_001347674.1:p.G122D

Associated Papers

Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition.

Fiorica PN et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39992227 (PubMed )
Supplement: ccr-24-2785_supplementary_data_1_suppds1.xlsx › Supplemental_Table_3

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
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."