GAA c.1985C>T ;(p.T662I)

Variant ID: 17-78086771-C-T

NM_000152.3(GAA):c.1985C>T;(p.T662I)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Spatially restricted drivers and transitional cell populations cooperate with the microenvironment in untreated and chemo-resistant pancreatic cancer.

Nature Genetics
Cui Zhou, Daniel D; Jayasinghe, Reyka G RG; Chen, Siqi S; Herndon, John M JM; Iglesia, Michael D MD; Navale, Pooja P; Wendl, Michael C MC; Caravan, Wagma W; Sato, Kazuhito K; Storrs, Erik E; Mo, Chia-Kuei CK; Liu, Jingxian J; Southard-Smith, Austin N AN; Wu, Yige Y; Naser Al Deen, Nataly N; Baer, John M JM; Fulton, Robert S RS; Wyczalkowski, Matthew A MA; Liu, Ruiyang R; Fronick, Catrina C CC; Fulton, Lucinda A LA; Shinkle, Andrew A; Thammavong, Lisa L; Zhu, Houxiang H; Sun, Hua H; Wang, Liang-Bo LB; Li, Yize Y; Zuo, Chong C; McMichael, Joshua F JF; Davies, Sherri R SR; Appelbaum, Elizabeth L EL; Robbins, Keenan J KJ; Chasnoff, Sara E SE; Yang, Xiaolu X; Reeb, Ashley N AN; Oh, Clara C; Serasanambati, Mamatha M; Lal, Preet P; Varghese, Rajees R; Mashl, Jay R JR; Ponce, Jennifer J; Terekhanova, Nadezhda V NV; Yao, Lijun L; Wang, Fang F; Chen, Lijun L; Schnaubelt, Michael M; Lu, Rita Jui-Hsien RJ; Schwarz, Julie K JK; Puram, Sidharth V SV; Kim, Albert H AH; Song, Sheng-Kwei SK; Shoghi, Kooresh I KI; Lau, Ken S KS; Ju, Tao T; Chen, Ken K; Chatterjee, Deyali D; Hawkins, William G WG; Zhang, Hui H; Achilefu, Samuel S; Chheda, Milan G MG; Oh, Stephen T ST; Gillanders, William E WE; Chen, Feng F; DeNardo, David G DG; Fields, Ryan C RC; Ding, Li L
Publication Date: 2022-09

Variant appearance in text: GAA: 1985C>T
PubMed Link: 35995947
Variant Present in the following documents:
  • 41588_2022_1157_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



The STAT3 HIES mutation is a gain-of-function mutation that activates genes via AGG-element carrying promoters.

Nucleic Acids Research
Xu, Li L; Ji, Jin-Jun JJ; Le, Wangping W; Xu, Yan S YS; Dou, Dandan D; Pan, Jieli J; Jiao, Yifeng Y; Zhong, Tianfei T; Wu, Dehong D; Wang, Yumei Y; Wen, Chengping C; Xie, Guan-Qun GQ; Yao, Feng F; Zhao, Heng H; Fan, Yong-Sheng YS; Chin, Y Eugene YE
Publication Date: 2015-10-15

Variant appearance in text: GAA: T662I
PubMed Link: 26384563
Variant Present in the following documents:
  • Main text
  • gkv911.pdf
View BVdb publication page