BRCA2 c.1830A>T ;(p.K610N)

Variant ID: 13-32907445-A-T

NM_000059.3(BRCA2):c.1830A>T;(p.K610N)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: K610N
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The Efficacy of Combined Cisplatin and Nanoparticle Albumin-Bound Paclitaxel in a Stage IV Pancreatic Squamous Cell Carcinoma Patient With a Somatic BRCA2 Mutation: A Case Report.

Frontiers In Oncology
Huang, Xiaozhun X; Wang, Chunling C; Ma, Teng T; Huang, Zhangkan Z; Zhou, Houhong H; Xu, Lin L; Zhang, Renjie R; Zhao, Jianjun J; Zhang, Yefan Y; Huang, Zhen Z; Shao, Lin L; Wang, Yang Y; Yang, Fan F; Che, Xu X
Publication Date: 2021

Variant appearance in text: BRCA2: 1830A>T
PubMed Link: 33996534
Variant Present in the following documents:
  • Main text
  • fonc-11-585983.pdf
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A novel PARD3B-NUTM1 fusion in an aggressive primary CNS embryonal tumor in a young adult.

Acta Neuropathologica Communications
Ko, Kyungmin K; Kitani, Takashi T; Harris, Brent T BT; Anaizi, Amjad N AN; Solomon, David D; Perry, Arie A; Toretsky, Jeffrey J; Ozdemirli, Metin M
Publication Date: 2020-07-17

Variant appearance in text: BRCA2: 1830A>T
PubMed Link: 32680570
Variant Present in the following documents:
  • 40478_2020_Article_991.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: 1830A>T; Lys610Asn
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.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: K610N
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page