KRT80 c.10C>T ;(p.R4C)

Variant ID: 12-52585677-G-A

NM_182507.2(KRT80):c.10C>T;(p.R4C)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: KRT80: R4C
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 33
View BVdb publication page



Dual origin of relapses in retinoic-acid resistant acute promyelocytic leukemia.

Nature Communications
Lehmann-Che, Jacqueline J; Bally, Cécile C; Letouzé, Eric E; Berthier, Caroline C; Yuan, Hao H; Jollivet, Florence F; Ades, Lionel L; Cassinat, Bruno B; Hirsch, Pierre P; Pigneux, Arnaud A; Mozziconacci, Marie-Joelle MJ; Kogan, Scott S; Fenaux, Pierre P; de Thé, Hugues H
Publication Date: 2018-05-24

Variant appearance in text: KRT80: Arg4Cys
PubMed Link: 29795382
Variant Present in the following documents:
  • 41467_2018_4384_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11

Variant appearance in text: rs112737744
PubMed Link: 24036952
Variant Present in the following documents:
  • NIHMS512112-supplement-2.xlsx, sheet 2
View BVdb publication page