Varaico: Literature-Extracted Genetic Variants

Gene:ATF7IP
Variant:p.N529S
Back to variants list

ATF7IP

NM_018179.5:p.N529S

Associated Papers

A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.

Zhu Y et al.

European Journal of Human Genetics : Ejhg, 2024

38627542 (PubMed )
Supplement: 41431_2024_1573_MOESM3_ESM.xlsx › Sheet1

High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Toulmonde M et al.

Ebiomedicine, 2020

33254023 (PubMed )
Supplement: mmc5.xlsx › UPS_somatic_mutations_filtered

Whole exome sequencing identified sixty-five coding mutations in four neuroblastoma tumors.

Miller AL et al.

Scientific Reports, 2017

Mammalian conserved ADAR targets comprise only a small fragment of the human editosome.

Pinto Y et al.

Genome Biology, 2014

24393560 (PubMed )
Supplement: gb-2014-15-1-r5-S1.xlsx › supplementary_table_10
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."