BRCA2 c.112G>T ;(p.E38*)

Variant ID: 13-32893258-G-T

NM_000059.3(BRCA2):c.112G>T;(p.E38*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Transcriptional differentiation of Trypanosoma brucei during in vitro acquisition of resistance to acoziborole.

Plos Neglected Tropical Diseases
Steketee, Pieter C PC; Giordani, Federica F; Vincent, Isabel M IM; Crouch, Kathryn K; Achcar, Fiona F; Dickens, Nicholas J NJ; Morrison, Liam J LJ; MacLeod, Annette A; Barrett, Michael P MP
Publication Date: 2021-11

Variant appearance in text: BRCA2: 112G>T
PubMed Link: 34752454
Variant Present in the following documents:
  • pntd.0009939.s005.xlsx, sheet 2
View BVdb publication page



Natural history, response to systemic therapy, and genomic landscape of plasmacytoid urothelial carcinoma.

British Journal Of Cancer
Teo, Min Yuen MY; Al-Ahmadie, Hikmat H; Seier, Kenneth K; Tully, Christopher C; Regazzi, Ashley M AM; Pietzak, Eugene E; Solit, David B DB; Tickoo, Satish S; Reuter, Victor V; Cha, Eugene K EK; Herr, Harry H; Donahue, Timothy T; Donat, Sherri M SM; Dalbagni, Guido G; Bochner, Bernard H BH; Funt, Samuel S; Iyer, Gopakumar V GV; Bajorin, Dean F DF; Ostrovnaya, Irina I; Rosenberg, Jonathan E JE
Publication Date: 2021-03

Variant appearance in text: BRCA2: E38*
PubMed Link: 33473164
Variant Present in the following documents:
  • 41416_2020_Article_1244.pdf
View BVdb publication page



Natural history, response to systemic therapy, and genomic landscape of plasmacytoid urothelial carcinoma.

British Journal Of Cancer
Teo, Min Yuen MY; Al-Ahmadie, Hikmat H; Seier, Kenneth K; Tully, Christopher C; Regazzi, Ashley M AM; Pietzak, Eugene E; Solit, David B DB; Tickoo, Satish S; Reuter, Victor V; Cha, Eugene K EK; Herr, Harry H; Donahue, Timothy T; Donat, Sherri M SM; Dalbagni, Guido G; Bochner, Bernard H BH; Funt, Samuel S; Iyer, Gopakumar V GV; Bajorin, Dean F DF; Ostrovnaya, Irina I; Rosenberg, Jonathan E JE
Publication Date: 2021-03

Variant appearance in text: BRCA2: E38*
PubMed Link: 33473164
Variant Present in the following documents:
  • 41416_2020_Article_1244.pdf
View BVdb publication page



Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer
Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ
Publication Date: 2020

Variant appearance in text: BRCA2: 112G>T; Glu38X
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page