MSH2 c.655A>T ;(p.R219*)

Variant ID: 2-47639562-A-T

NM_000251.2(MSH2):c.655A>T;(p.R219*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: MSH2: R219X
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Genomic and Transcriptomic Characterisation of Response to Neoadjuvant Chemoradiotherapy in Locally Advanced Rectal Cancer.

Cancers
Toomey, Sinead S; Gunther, Jillian J; Carr, Aoife A; Weksberg, David C DC; Thomas, Valentina V; Salvucci, Manuela M; Bacon, Orna O; Sherif, El-Masry EM; Fay, Joanna J; Kay, Elaine W EW; Sheehan, Katherine M KM; McNamara, Deborah A DA; Sanders, Keith L KL; Mathew, Geena G; Breathnach, Oscar S OS; Grogan, Liam L; Morris, Patrick G PG; Foo, Wai C WC; You, Yi-Qian N YN; Prehn, Jochen H JH; O'Neill, Brian B; Krishnan, Sunil S; Hennessy, Bryan T BT; Furney, Simon J SJ
Publication Date: 2020-07-06

Variant appearance in text: MSH2: R219*
PubMed Link: 32640573
Variant Present in the following documents:
  • Main text
  • cancers-12-01808.pdf
View BVdb publication page