TLN2 c.1801A>G ;(p.M601V)

Variant ID: 15-62994295-A-G

NM_015059.2(TLN2):c.1801A>G;(p.M601V)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: TLN2: M601V
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

Embo Molecular Medicine
El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W
Publication Date: 2023-03-14

Variant appearance in text: TLN2: 1801A>G; Met601Val
PubMed Link: 36916446
Variant Present in the following documents:
  • EMMM-15-e16834-s012.xlsx, sheet 1
View BVdb publication page



Mutational landscape of mucinous ovarian carcinoma and its neoplastic precursors.

Genome Medicine
Ryland, Georgina L GL; Hunter, Sally M SM; Doyle, Maria A MA; Caramia, Franco F; Li, Jason J; Rowley, Simone M SM; Christie, Michael M; Allan, Prue E PE; Stephens, Andrew N AN; Bowtell, David D L DD; , ; Campbell, Ian G IG; Gorringe, Kylie L KL
Publication Date: 2015

Variant appearance in text: TLN2: 1801A>G; Met601Val
PubMed Link: 26257827
Variant Present in the following documents:
  • 13073_2015_210_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page