CXCR4 c.783C>T ;(p.I261=)

Variant ID: 2-136872715-G-A

NM_003467.2(CXCR4):c.783C>T;(p.I261=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID).

Scientific Reports
Bisgin, Atil A; Sonmezler, Ozge O; Boga, Ibrahim I; Yilmaz, Mustafa M
Publication Date: 2021-04-15

Variant appearance in text: CXCR4: I261I
PubMed Link: 33859323
Variant Present in the following documents:
  • 41598_2021_87898_MOESM3_ESM.pdf
  • 41598_2021_87898_MOESM2_ESM.pdf
View BVdb publication page



Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility.

Bmc Medical Genetics
Finkel, Terri H TH; Li, Jin J; Wei, Zhi Z; Wang, Wei W; Zhang, Haitao H; Behrens, Edward M EM; Reuschel, Emma L EL; Limou, Sophie S; Wise, Carol C; Punaro, Marilynn M; Becker, Mara L ML; Munro, Jane E JE; Flatø, Berit B; Førre, Øystein Ø; Thompson, Susan D SD; Langefeld, Carl D CD; Glass, David N DN; Glessner, Joseph T JT; Kim, Cecilia E CE; Frackelton, Edward E; Shivers, Debra K DK; Thomas, Kelly A KA; Chiavacci, Rosetta M RM; Hou, Cuiping C; Xu, Kexiang K; Snyder, James J; Qiu, Haijun H; Mentch, Frank F; Wang, Kai K; Winkler, Cheryl A CA; Lie, Benedicte A BA; Ellis, Justine A JA; Hakonarson, Hakon H
Publication Date: 2016-03-22

Variant appearance in text: rs148279552
PubMed Link: 27005825
Variant Present in the following documents:
  • Main text
  • 12881_2016_Article_285.pdf
View BVdb publication page



Risk for HIV-1 infection associated with a common CXCL12 (SDF1) polymorphism and CXCR4 variation in an African population.

Journal Of Acquired Immune Deficiency Syndromes (1999)
Petersen, Desiree C DC; Glashoff, Richard H RH; Shrestha, Sadeep S; Bergeron, Julie J; Laten, Annette A; Gold, Bert B; van Rensburg, Estrelita Janse EJ; Dean, Michael M; Hayes, Vanessa M VM
Publication Date: 2005-12-15

Variant appearance in text: CXCR4: I261I
PubMed Link: 16284526
Variant Present in the following documents:
  • Main text
View BVdb publication page