CD33 c.727T>C ;(p.F243L)

Variant ID: 19-51729594-T-C

NM_001772.3(CD33):c.727T>C;(p.F243L)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications
Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S
Publication Date: 2022-11

Variant appearance in text: CD33: F243L; rs11882250
PubMed Link: 36643868
Variant Present in the following documents:
  • crc-22-0245-s07.xlsx, sheet 1
View BVdb publication page



Semantic and right temporal variant of FTD: Next generation sequencing genetic analysis on a single-center cohort.

Frontiers In Aging Neuroscience
Rossi, Giacomina G; Salvi, Erika E; Mehmeti, Elkadia E; Ricci, Martina M; Villa, Cristina C; Prioni, Sara S; Moda, Fabio F; Di Fede, Giuseppe G; Tiraboschi, Pietro P; Redaelli, Veronica V; Coppola, Cinzia C; Koch, Giacomo G; Canu, Elisa E; Filippi, Massimo M; Agosta, Federica F; Giaccone, Giorgio G; Caroppo, Paola P
Publication Date: 2022

Variant appearance in text: CD33: 727T>C; F243L
PubMed Link: 36570531
Variant Present in the following documents:
  • Main text
  • fnagi-14-1085406.pdf
View BVdb publication page



Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.

Scientific Reports
Blumenau, Sonja S; Foddis, Marco M; Müller, Susanne S; Holtgrewe, Manuel M; Bentele, Kajetan K; Berchtold, Daniel D; Beule, Dieter D; Dirnagl, Ulrich U; Sassi, Celeste C
Publication Date: 2020-04-28

Variant appearance in text: rs11882250
PubMed Link: 32345996
Variant Present in the following documents:
  • 41598_2020_63183_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Insights into the IgG heavy chain engineering patent landscape as applied to IgG4 antibody development.

Mabs
Dumet, Christophe C; Pottier, Jérémy J; Gouilleux-Gruart, Valérie V; Watier, Hervé H
Publication Date: 2019

Variant appearance in text: CD33: F243L
PubMed Link: 31556789
Variant Present in the following documents:
  • Main text
  • kmab-11-08-1664365.pdf
View BVdb publication page



Gemtuzumab ozogamicin for treatment of newly diagnosed CD33-positive acute myeloid leukemia.

Future Oncology (London, England)
Gbadamosi, Mohammed M; Meshinchi, Soheil S; Lamba, Jatinder K JK
Publication Date: 2018-12

Variant appearance in text: CD33: Phe243Leu
PubMed Link: 30039981
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs11882250
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Clinical significance of CD33 nonsynonymous single-nucleotide polymorphisms in pediatric patients with acute myeloid leukemia treated with gemtuzumab-ozogamicin-containing chemotherapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Mortland, Leslie L; Alonzo, Todd A TA; Walter, Roland B RB; Gerbing, Robert B RB; Mitra, Amit K AK; Pollard, Jessica A JA; Loken, Michael R MR; Hirsch, Betsy B; Raimondi, Susana S; Franklin, Janet J; Pounds, Stanley S; Cao, Xueyuan X; Rubnitz, Jeffrey E JE; Ribeiro, Raul C RC; Gamis, Alan A; Meshinchi, Soheil S; Lamba, Jatinder K JK
Publication Date: 2013-03-15

Variant appearance in text: CD33: Phe243Leu; rs11882250
PubMed Link: 23444229
Variant Present in the following documents:
  • Main text
View BVdb publication page