FLG c.3222_3225del ;(p.S1074Rfs*47)

Variant ID: 1-152284136-CCTCA-C

NM_002016.1(FLG):c.3222_3225del;(p.S1074Rfs*47)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Nature Communications
Cong, Pei-Kuan PK; Bai, Wei-Yang WY; Li, Jin-Chen JC; Yang, Meng-Yuan MY; Khederzadeh, Saber S; Gai, Si-Rui SR; Li, Nan N; Liu, Yu-Heng YH; Yu, Shi-Hui SH; Zhao, Wei-Wei WW; Liu, Jun-Quan JQ; Sun, Yi Y; Zhu, Xiao-Wei XW; Zhao, Pian-Pian PP; Xia, Jiang-Wei JW; Guan, Peng-Lin PL; Qian, Yu Y; Tao, Jian-Guo JG; Xu, Lin L; Tian, Geng G; Wang, Ping-Yu PY; Xie, Shu-Yang SY; Qiu, Mo-Chang MC; Liu, Ke-Qi KQ; Tang, Bei-Sha BS; Zheng, Hou-Feng HF
Publication Date: 2022-05-26

Variant appearance in text: FLG: 3222_3225del; S1074Rfs*47
PubMed Link: 35618720
Variant Present in the following documents:
  • 41467_2022_30526_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Deciphering genes associated with diffuse large B-cell lymphoma with lymphomatous effusions: A mutational accumulation scoring approach.

Biomarker Research
Abdollahi, Sina S; Dehghanian, Seyedeh Zahra SZ; Hung, Liang-Yi LY; Yang, Shiang-Jie SJ; Chen, Dao-Peng DP; Medeiros, L Jeffrey LJ; Chiang, Jung-Hsien JH; Chang, Kung-Chao KC
Publication Date: 2021-10-09

Variant appearance in text: FLG: 3221_3224del; S1074fs
PubMed Link: 34635181
Variant Present in the following documents:
  • 40364_2021_330_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii
Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J
Publication Date: 2021-07-13

Variant appearance in text: FLG: 3222_3225delTGAG; S1074Rfs*47
PubMed Link: 34255132
Variant Present in the following documents:
  • 262_2021_3012_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii
Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J
Publication Date: 2022-02

Variant appearance in text: FLG: 3222_3225delTGAG; S1074Rfs*47
PubMed Link: 34255132
Variant Present in the following documents:
  • 262_2021_3012_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Massively Parallel Sequencingof the Filaggrin Gene Reveals an Association Between FLG Loss-of-function Mutations and Leprosy.

Acta Dermato-Venereologica
Shi, Wenhao W; Mi, Zihao Z; Wang, Zhenzhen Z; Zhang, Huimin H; Wang, Na N; Wang, Zhe Z; Zhang, Bowen B; Xia, Qianqian Q; Yu, Yueqian Y; Yu, Gongqi G; Sun, Lele L; Fu, Xian X; Wang, Chuan C; Liu, Hong H; Zhang, Furen F
Publication Date: 2020-10-21

Variant appearance in text: FLG: 3222_3225del
PubMed Link: 33047146
Variant Present in the following documents:
  • Main text
  • ActaDV-100-17-5910.pdf
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: FLG: 3222_3225delTGAG; Ser1074fs
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: FLG: 3222_3225delTGAG; Ser1074ArgfsX47
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page