DICER1 c.3227G>A ;(p.S1076N)

Variant ID: 14-95571450-C-T

NM_177438.2(DICER1):c.3227G>A;(p.S1076N)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging
Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M
Publication Date: 2022-05-25

Variant appearance in text: DICER1: 3227G>A; S1076N
PubMed Link: 35613927
Variant Present in the following documents:
  • aging-14-204101-s004.xlsx, sheet 1
View BVdb publication page



Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: DICER1: 3227G>A; S1076N
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

Frontiers In Endocrinology
Martínez de LaPiscina, Idoia I; Hernández-Ramírez, Laura C LC; Portillo, Nancy N; Gómez-Gila, Ana L AL; Urrutia, Inés I; Martínez-Salazar, Rosa R; García-Castaño, Alejandro A; Aguayo, Aníbal A; Rica, Itxaso I; Gaztambide, Sonia S; Faucz, Fabio R FR; Keil, Margaret F MF; Lodish, Maya B MB; Quezado, Martha M; Pankratz, Nathan N; Chittiboina, Prashant P; Lane, John J; Kay, Denise M DM; Mills, James L JL; Castaño, Luis L; Stratakis, Constantine A CA
Publication Date: 2020

Variant appearance in text: DICER1: 3227G>A; S1076N; rs778494781
PubMed Link: 32714280
Variant Present in the following documents:
  • Main text
  • fendo-11-00433.pdf
View BVdb publication page



Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.

Bmc Medical Genetics
Zhou, Zhaowei Z; Ma, Lidan L; Zhou, Juan J; Song, Zhijian Z; Zhang, Jinmai J; Wang, Ke K; Chen, Boyu B; Pan, Dun D; Li, Zhiqiang Z; Li, Changgui C; Shi, Yongyong Y
Publication Date: 2018-08-10

Variant appearance in text: DICER1: S1076N
PubMed Link: 30097038
Variant Present in the following documents:
  • 12881_2018_595_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page