Varaico: Literature-Extracted Genetic Variants

Gene:HERPUD1
Variant:p.R20C
Back to variants list

HERPUD1

NM_014685.4:p.R20C

Associated Papers

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Anderson EN et al.

American Journal of Human Genetics, 2026

41468891 (PubMed )
Supplement: mmc1.pdf

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Anderson EN et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40236430 (PubMed )
Supplement: media-1.pdf

Developmental mosaicism underlying EGFR-mutant lung cancer presenting with multiple primary tumors.

Burr R et al.

Nature Cancer, 2024

39406916 (PubMed )
Supplement: 43018_2024_840_MOESM2_ESM.xlsx › Supplementary_Table_2

Germline mutations and developmental mosaicism underlying EGFR-mutant lung cancer.

Burr R et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808694 (PubMed )
Supplement: media-2.xlsx › Patient_3
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."