BRCA2 c.2210C>T ;(p.A737V)

Variant ID: 13-32910702-C-T

NM_000059.3(BRCA2):c.2210C>T;(p.A737V)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: BRCA2: 2210C>T
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Validation of AmpliSeq NGS Panel for BRCA1 and BRCA2 Variant Detection in Canine Formalin-Fixed Paraffin-Embedded Mammary Tumors.

Life (Basel, Switzerland)
Di Giacomo, Daniela D; Di Domenico, Marco M; Defourny, Sabrina Vanessa Patrizia SVP; Malatesta, Daniela D; Di Teodoro, Giovanni G; Martino, Michele M; Viola, Antonello A; D'Alterio, Nicola N; Cammà, Cesare C; Modesto, Paola P; Petrini, Antonio A
Publication Date: 2022-06-07

Variant appearance in text: BRCA2: 2210C>T; Ala737Val
PubMed Link: 35743882
Variant Present in the following documents:
  • life-12-00851.pdf
View BVdb publication page



Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific Reports
Aljarf, Raghad R; Shen, Mengyuan M; Pires, Douglas E V DEV; Ascher, David B DB
Publication Date: 2022-06-21

Variant appearance in text: BRCA2: A737V
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: BRCA2: A737V
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: BRCA2: A737V
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
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: 2210C>T; Ala737Val
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology
Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S
Publication Date: 2020-03

Variant appearance in text: BRCA2: A737V
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
View BVdb publication page



Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ
Publication Date: 2019-01

Variant appearance in text: BRCA2: A737V
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



BRE/BRCC45 regulates CDC25A stability by recruiting USP7 in response to DNA damage.

Nature Communications
Biswas, Kajal K; Philip, Subha S; Yadav, Aditya A; Martin, Betty K BK; Burkett, Sandra S; Singh, Vaibhav V; Babbar, Anav A; North, Susan Lynn SL; Chang, Suhwan S; Sharan, Shyam K SK
Publication Date: 2018-02-07

Variant appearance in text: BRCA2: A737V
PubMed Link: 29416040
Variant Present in the following documents:
  • 41467_2018_3020_MOESM1_ESM.pdf
View BVdb publication page