CD4 c.815T>C ;(p.L272P)

Variant ID: 12-6925429-T-C

NM_000616.4(CD4):c.815T>C;(p.L272P)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Increased cross-presentation by dendritic cells and enhanced anti-tumour therapy using the Arp2/3 inhibitor CK666.

British Journal Of Cancer
Oliveira, Mariana M S MMS; D'Aulerio, Roberta R; Yong, Tracer T; He, Minghui M; Baptista, Marisa A P MAP; Nylén, Susanne S; Westerberg, Lisa S LS
Publication Date: 2023-01-11

Variant appearance in text: CD4: L272P
PubMed Link: 36631633
Variant Present in the following documents:
  • 41416_2022_Article_2135.pdf
View BVdb publication page



Molecular Tuning of Actin Dynamics in Leukocyte Migration as Revealed by Immune-Related Actinopathies.

Frontiers In Immunology
Kamnev, Anton A; Lacouture, Claire C; Fusaro, Mathieu M; Dupré, Loïc L
Publication Date: 2021

Variant appearance in text: CD4: L272P
PubMed Link: 34867982
Variant Present in the following documents:
  • fimmu-12-750537.pdf
View BVdb publication page



Constitutive activation of WASp leads to abnormal cytotoxic cells with increased granzyme B and degranulation response to target cells.

Jci Insight
Kritikou, Joanna S JS; Oliveira, Mariana Ms MM; Record, Julien J; Saeed, Mezida B MB; Nigam, Saket M SM; He, Minghui M; Keszei, Marton M; Wagner, Arnika K AK; Brauner, Hanna H; Sendel, Anton A; Sedimbi, Saikiran K SK; Rentouli, Stamatina S; Lane, David P DP; Snapper, Scott B SB; Kärre, Klas K; Vandenberghe, Peter P; Orange, Jordan S JS; Westerberg, Lisa S LS
Publication Date: 2021-03-22

Variant appearance in text: CD4: L272P
PubMed Link: 33621210
Variant Present in the following documents:
  • Main text
  • jciinsight-6-140273-s015.pdf
View BVdb publication page



Nuclear Wiskott-Aldrich syndrome protein co-regulates T cell factor 1-mediated transcription in T cells.

Genome Medicine
Kuznetsov, Nikolai V NV; Almuzzaini, Bader B; Kritikou, Joanna S JS; Baptista, Marisa A P MAP; Oliveira, Mariana M S MMS; Keszei, Marton M; Snapper, Scott B SB; Percipalle, Piergiorgio P; Westerberg, Lisa S LS
Publication Date: 2017-10-27

Variant appearance in text: CD4: L272P
PubMed Link: 29078804
Variant Present in the following documents:
  • Main text
View BVdb publication page



An evolutionary analysis of antigen processing and presentation across different timescales reveals pervasive selection.

Plos Genetics
Forni, Diego D; Cagliani, Rachele R; Tresoldi, Claudia C; Pozzoli, Uberto U; De Gioia, Luca L; Filippi, Giulia G; Riva, Stefania S; Menozzi, Giorgia G; Colleoni, Marta M; Biasin, Mara M; Lo Caputo, Sergio S; Mazzotta, Francesco F; Comi, Giacomo P GP; Bresolin, Nereo N; Clerici, Mario M; Sironi, Manuela M
Publication Date: 2014-03

Variant appearance in text: CD4: L272P
PubMed Link: 24675550
Variant Present in the following documents:
  • Main text
  • pgen.1004189.pdf
View BVdb publication page



Phosphorylation of WASp is a key regulator of activity and stability in vivo.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Blundell, Michael P MP; Bouma, Gerben G; Metelo, Joao J; Worth, Austen A; Calle, Yolanda Y; Cowell, Lucy A LA; Westerberg, Lisa S LS; Moulding, Dale A DA; Mirando, Samuel S; Kinnon, Christine C; Cory, Giles O GO; Jones, Gareth E GE; Snapper, Scott B SB; Burns, Siobhan O SO; Thrasher, Adrian J AJ
Publication Date: 2009-09-15

Variant appearance in text: CD4: L272P
PubMed Link: 19805221
Variant Present in the following documents:
  • Main text
View BVdb publication page