CYP21A2 c.806G>A ;(p.S269N)

Variant ID: 6-32007849-G-A

NM_000500.7(CYP21A2):c.806G>A;(p.S269N)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs6472
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-25

Variant appearance in text: rs6472
PubMed Link: 36966136
Variant Present in the following documents:
  • 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs6472
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: rs6472
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
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: rs6472
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs6472
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Search for age-related macular degeneration risk variants in Alzheimer disease genes and pathways.

Neurobiology Of Aging
Logue, Mark W MW; Schu, Matthew M; Vardarajan, Badri N BN; Farrell, John J; Lunetta, Kathryn L KL; Jun, Gyungah G; Baldwin, Clinton T CT; Deangelis, Margaret M MM; Farrer, Lindsay A LA
Publication Date: 2014-06

Variant appearance in text: rs6472
PubMed Link: 24439028
Variant Present in the following documents:
  • Main text
View BVdb publication page



Both positive and negative selection pressures contribute to the polymorphism pattern of the duplicated human CYP21A2 gene.

Plos One
Szabó, Julianna Anna JA; Szilágyi, Ágnes Á; Doleschall, Zoltán Z; Patócs, Attila A; Farkas, Henriette H; Prohászka, Zoltán Z; Rácz, Kárioly K; Füst, George G; Doleschall, Márton M
Publication Date: 2013

Variant appearance in text: rs6472
PubMed Link: 24312389
Variant Present in the following documents:
  • Main text
  • pone.0081977.pdf
View BVdb publication page



Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency.

Bmc Medical Genetics
Coeli, Fernanda B FB; Soardi, Fernanda C FC; Bernardi, Renan D RD; de Araújo, Marcela M; Paulino, Luciana C LC; Lau, Ivy F IF; Petroli, Reginaldo J RJ; de Lemos-Marini, Sofia H V SH; Baptista, Maria T M MT; Guerra-Júnior, Gil G; de-Mello, Maricilda P MP
Publication Date: 2010-06-29

Variant appearance in text: rs6472
PubMed Link: 20587039
Variant Present in the following documents:
  • Main text
  • 1471-2350-11-104.pdf
View BVdb publication page