Varaico: Literature-Extracted Genetic Variants

Gene:TFAP2A
Variant:p.P62R
Back to variants list

TFAP2A

NM_001372066.1:p.P62R

Associated Papers

KCTD1 mutants in scalp‑ear‑nipple syndrome and AP‑2α P59A in Char syndrome reciprocally abrogate their interactions, but can regulate Wnt/β‑catenin signaling.

Hu L et al.

Molecular Medicine Reports, 2020

AP-2β is a transcriptional regulator for determination of digit length in tetrapods.

Seki R et al.

Developmental Biology, 2015

Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation.

Zhao F et al.

American Journal of Human Genetics, 2001

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."