RB1 c.1372G>A ;(p.E458K)

Variant ID: 13-48953769-G-A

NM_000321.2(RB1):c.1372G>A;(p.E458K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Circulating tumour DNA analysis predicts relapse and improves risk stratification in primary refractory multiple myeloma.

Blood Cancer Journal
Mithraprabhu, Sridurga S; Reynolds, John J; Turner, Rose R; Quach, Hang H; Horvath, Noemi N; Kerridge, Ian I; Kalff, Anna A; Bergin, Krystal K; Hocking, Jay J; Yuen, Flora F; Khong, Tiffany T; Durie, Brian M BM; Spencer, Andrew A
Publication Date: 2023-02-13

Variant appearance in text: RB1: 1372G>A
PubMed Link: 36781844
Variant Present in the following documents:
  • 41408_2023_796_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: RB1: E458K
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page