RB1 c.2035A>G ;(p.I679V)

Variant ID: 13-49033898-A-G

NM_000321.2(RB1):c.2035A>G;(p.I679V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.

Cell Death & Disease
Peng, Lin L; Zhao, Min M; Liu, Tianqi T; Chen, Jiangbo J; Gao, Pin P; Chen, Lei L; Xing, Pu P; Wang, Zaozao Z; Di, Jiabo J; Xu, Qiang Q; Qu, Hong H; Jiang, Beihai B; Su, Xiangqian X
Publication Date: 2022-04-22

Variant appearance in text: RB1: I679V
PubMed Link: 35459861
Variant Present in the following documents:
  • 41419_2022_4844_MOESM4_ESM.xlsx, sheet 3
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Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One
Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD
Publication Date: 2019

Variant appearance in text: RB1: 2035A>G; Ile679Val
PubMed Link: 30608972
Variant Present in the following documents:
  • pone.0210079.s007.xlsx, sheet 18
  • pone.0210079.s007.xlsx, sheet 19
View BVdb publication page



Somatic alterations in brain tumors.

Oncology Reports
Barnholtz-Sloan, Jill J; Sloan, Andrew E AE; Land, Susan S; Kupsky, William W; Monteiro, Alvaro N A AN
Publication Date: 2008-07

Variant appearance in text: RB1: I679V
PubMed Link: 18575738
Variant Present in the following documents:
  • Main text
View BVdb publication page