RB1 c.238A>G ;(p.K80E)

Variant ID: 13-48881516-A-G

NM_000321.2(RB1):c.238A>G;(p.K80E)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Plasmablastic Lymphoma Associated with Adjacent Mature Plasma Cell Population Exhibiting Opposite Light Chain Restriction.

Case Reports In Pathology
Furlan, Karina K; Miller, Ira I; Mahon, Brett B; Ocampo Gonzalez, Fernando A FA; Ward, Nicholas N
Publication Date: 2020

Variant appearance in text: RB1: 238A>G
PubMed Link: 33489398
Variant Present in the following documents:
  • CRIPA2020-8875547.pdf
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: RB1: 238A>G; K80E
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology
Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA
Publication Date: 2019-10

Variant appearance in text: RB1: K80E; rs751870680
PubMed Link: 31613886
Variant Present in the following documents:
  • pcbi.1007453.s004.xlsx, sheet 7
  • pcbi.1007453.s002.xlsx, sheet 1
  • pcbi.1007453.s004.xlsx, sheet 2
  • pcbi.1007453.s004.xlsx, sheet 6
View BVdb publication page



Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology
Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I
Publication Date: 2018-07

Variant appearance in text: RB1: 238A>G; K80E
PubMed Link: 29604063
Variant Present in the following documents:
  • PATH-245-283-s021.xlsx, sheet 1
View BVdb publication page