Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EPAS1

Variant:p.P641S

Back to variants list

EPAS1

NM_001430.5:p.P641S

hg38:chr2:46380593 C>T

Associated Papers

BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma.

Randall MP et al.

Journal of the National Cancer Institute, 2024

37688570 (PubMed )

BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma.

Randall MP et al.

Biorxiv : the Preprint Server for Biology, 2023

36778420 (PubMed )

Supplement: media-1.pdf

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."