AMACR c.130_131delinsCC ;(p.S44P)

Variant ID: 5-34007994-CT-GG

NM_014324.5(AMACR):c.130_131delinsCC;(p.S44P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


DEspR T/CATAAAA-box promoter variant decreases DEspR transcription and is associated with increased BP in Sardinian males.

Physiological Genomics
Glorioso, Nicola N; Herrera, Victoria L M VL; Didishvili, Tamara T; Argiolas, Giuseppe G; Troffa, Chiara C; Bulla, Patrizia P; Bulla, Emanuela E; Ruiz-Opazo, Nelson N
Publication Date: 2011-11-07

Variant appearance in text: RACE: S44P
PubMed Link: 21862670
Variant Present in the following documents:
  • Main text
View BVdb publication page



MITOSTATIN, a putative tumor suppressor on chromosome 12q24.1, is downregulated in human bladder and breast cancer.

Oncogene
Vecchione, A A; Fassan, M M; Anesti, V V; Morrione, A A; Goldoni, S S; Baldassarre, G G; Byrne, D D; D'Arca, D D; Palazzo, J P JP; Lloyd, J J; Scorrano, L L; Gomella, L G LG; Iozzo, R V RV; Baffa, R R
Publication Date: 2009-01-15

Variant appearance in text: RACE: S44P
PubMed Link: 18931701
Variant Present in the following documents:
  • Main text
  • nihms68445.pdf
View BVdb publication page