MUS81 c.1168A>C ;(p.N390H)

Variant ID: 11-65632076-A-C

NM_025128.4(MUS81):c.1168A>C;(p.N390H)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.

Cancers
Pinheiro, Maisa M; Lupinacci, Fernanda Cristina Sulla FCS; Santiago, Karina Miranda KM; Drigo, Sandra Aparecida SA; Marchi, Fabio Albuquerque FA; Fonseca-Alves, Carlos Eduardo CE; Andrade, Sonia Cristina da Silva SCDS; Aagaard, Mads Malik MM; Basso, Tatiane Ramos TR; Dos Reis, Mariana Bisarro MB; Villacis, Rolando André Rios RAR; Roffé, Martin M; Hajj, Glaucia Noeli Maroso GNM; Jurisica, Igor I; Kowalski, Luiz Paulo LP; Achatz, Maria Isabel MI; Rogatto, Silvia Regina SR
Publication Date: 2020-05-20

Variant appearance in text: MUS81: 1168A>C
PubMed Link: 32443704
Variant Present in the following documents:
  • Main text
  • cancers-12-01289.pdf
View BVdb publication page



TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01

Variant appearance in text: MUS81: N390H; rs115472389
PubMed Link: 30385747
Variant Present in the following documents:
  • 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: MUS81: N390H; rs115472389
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Publication Date: 2013-03

Variant appearance in text: rs115472389
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s008.xlsx, sheet 1
View BVdb publication page