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Nov 13, 2025 · BRCA1 mutations in the germline have become a hallmark for hereditary breast and ovarian cancers. Variants that have been demonstrated to reduce the function of the …

BRCAI, BRCC1, BROVCA1, IRIS, PNCA4, PPP1R53, PSCP, RNF53. Chromosome 17: 41,196,312-41,277,500 reverse strand. GRCh37:CM000679.1. This gene has 31 transcripts …

Click on a disease name to see all genes associated with that disease. Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene. Click cells to view annotations.

There are 95 PTMs annotated in this protein: To see the full details, including possible functional associations between the PTMs, please visit the PTMcode annotation page for protein …

Family and domain databases View all family and domain features for this entry's canonical sequence in the UniParc Feature Viewer.

The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form …

This section displays the selected representative (canonical) protein sequence and all the isoforms described in the entry (Figure 34). It also includes information about the sequences …

Exons: 23, Coding exons: 22, Transcript length: 7,094 bps, Translation length: 1,863 residues. This transcript corresponds to the following Uniprot identifiers: P38398. This transcript is a …

Smith et al. (1996) sequenced 117,143 bp from human chromosome 17 encompassing BRCA1. The 24 exons of BRCA1 spanned an 81-kb region that had an unusually high density of Alu …