RB1 c.1075A>T ;(p.K359*)

Variant ID: 13-48942688-A-T

NM_000321.2(RB1):c.1075A>T;(p.K359*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Non-Invasive Prenatal Diagnosis of Retinoblastoma Inheritance by Combined Targeted Sequencing Strategies.

Journal Of Clinical Medicine
Gerrish, Amy A; Bowns, Benjamin B; Mashayamombe-Wolfgarten, Chipo C; Young, Elizabeth E; Court, Samantha S; Bott, Joshua J; McCalla, Maureen M; Ramsden, Simon S; Parks, Michael M; Goudie, David D; Carless, Sue S; Clokie, Samuel S; Cole, Trevor T; Allen, Stephanie S
Publication Date: 2020-10-30

Variant appearance in text: RB1: 1075A>T
PubMed Link: 33143217
Variant Present in the following documents:
  • jcm-09-03517-s001.pdf
  • jcm-09-03517.pdf
View BVdb publication page



Next-Generation Technologies and Strategies for the Management of Retinoblastoma.

Genes
Gudiseva, Harini V HV; Berry, Jesse L JL; Polski, Ashley A; Tummina, Santa J SJ; O'Brien, Joan M JM
Publication Date: 2019-12-11

Variant appearance in text: RB1: 1075A>T
PubMed Link: 31835688
Variant Present in the following documents:
  • genes-10-01032.pdf
View BVdb publication page



Potential of Aqueous Humor as a Surrogate Tumor Biopsy for Retinoblastoma.

Jama Ophthalmology
Berry, Jesse L JL; Xu, Liya L; Murphree, A Linn AL; Krishnan, Subramanian S; Stachelek, Kevin K; Zolfaghari, Emily E; McGovern, Kathleen K; Lee, Thomas C TC; Carlsson, Anders A; Kuhn, Peter P; Kim, Jonathan W JW; Cobrinik, David D; Hicks, James J
Publication Date: 2017-11-01

Variant appearance in text: RB1: 1075A>T; Lys359Ter
PubMed Link: 29049475
Variant Present in the following documents:
  • Main text
View BVdb publication page



Map2k4 functions as a tumor suppressor in lung adenocarcinoma and inhibits tumor cell invasion by decreasing peroxisome proliferator-activated receptor γ2 expression.

Molecular And Cellular Biology
Ahn, Young-Ho YH; Yang, Yanan Y; Gibbons, Don L DL; Creighton, Chad J CJ; Yang, Fei F; Wistuba, Ignacio I II; Lin, Wei W; Thilaganathan, Nishan N; Alvarez, Cristina A CA; Roybal, Jonathon J; Goldsmith, Elizabeth J EJ; Tournier, Cathy C; Kurie, Jonathan M JM
Publication Date: 2011-11

Variant appearance in text: RB1: K359*
PubMed Link: 21896780
Variant Present in the following documents:
  • Main text
View BVdb publication page