Varaico: Literature-Extracted Genetic Variants

Gene:AQP12A
Variant:p.R144P
Back to variants list

AQP12A

NM_198998.3:p.R144P

Associated Papers

The PARP1 selective inhibitor saruparib (AZD5305) elicits potent and durable antitumor activity in patient-derived BRCA1/2-associated cancer models.

Herencia-Ropero A et al.

Genome Medicine, 2024

39187844 (PubMed )
Supplement: 13073_2024_1370_MOESM3_ESM.xlsx › SNV

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table3.XLSX › Sheet1

Whole genome analyses of a well-differentiated liposarcoma reveals novel SYT1 and DDR2 rearrangements.

Egan JB et al.

Plos One, 2014

24505276 (PubMed )
Supplement: pone.0087113.s004.xls › Table_S3
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."