THSD7A c.3758G>A ;(p.R1253Q)

Variant ID: 7-11450874-C-T

NM_015204.2(THSD7A):c.3758G>A;(p.R1253Q)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


The genomic landscape of familial glioma.

Science Advances
Choi, Dong-Joo DJ; Armstrong, Georgina G; Lozzi, Brittney B; Vijayaraghavan, Prashanth P; Plon, Sharon E SE; Wong, Terence C TC; Boerwinkle, Eric E; Muzny, Donna M DM; Chen, Hsiao-Chi HC; Gibbs, Richard A RA; Ostrom, Quinn T QT; Melin, Beatrice B; Deneen, Benjamin B; Bondy, Melissa L ML; , ; , ; Bainbridge, Matthew N MN; Amos, Christopher I CI; Barnholtz-Sloan, Jill S JS; Bernstein, Jonine L JL; Claus, Elizabeth B EB; Houlston, Richard S RS; Il'yasova, Dora D; Jenkins, Robert B RB; Johansen, Christoffer C; Lachance, Daniel D; Lai, Rose R; Melin, Beatrice S BS; Merrell, Ryan T RT; Olson, Sara H SH; Sadetzki, Siegal S; Schildkraut, Joellen J; Shete, Sanjay S; Ambrose, J C JC; Arumugam, P P; Bevers, R R; Bleda, M M; Boardman-Pretty, F F; Boustred, C R CR; Brittain, H H; Brown, M A MA; Caulfield, M J MJ; Chan, G C GC; Giess, A A; Griffin, J N JN; Hamblin, A A; Henderson, S S; Hubbard, T J P TJP; Jackson, R R; Jones, L J LJ; Kasperaviciute, D D; Kayikci, M M; Kousathanas, A A; Lahnstein, L L; Lakey, A A; Leigh, S E A SEA; Leong, I U S IUS; Lopez, F J FJ; Maleady-Crowe, F F; McEntagart, M M; Minneci, F F; Mitchell, J J; Moutsianas, L L; Mueller, M M; Murugaesu, N N; Need, A C AC; O'Donovan, P P; Odhams, C A CA; Patch, C C; Perez-Gil, D D; Pereira, M B MB; Pullinger, J J; Rahim, T T; Rendon, A A; Rogers, T T; Savage, K K; Sawant, K K; Scott, R H RH; Siddiq, A A; Sieghart, A A; Smith, S C SC; Sosinsky, A A; Stuckey, A A; Tanguy, M M; Taylor Tavares, A L AL; Thomas, E R A ERA; Thompson, S R SR; Tucci, A A; Welland, M J MJ; Williams, E E; Witkowska, K K; Wood, S M SM; Zarowiecki, M M
Publication Date: 2023-04-28

Variant appearance in text: THSD7A: R1253Q
PubMed Link: 37115922
Variant Present in the following documents:
  • Main text
  • sciadv.ade2675.pdf
View BVdb publication page



Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; BalmaƱa, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: THSD7A: R1253Q
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: THSD7A: 3758G>A
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: THSD7A: R1253Q
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
View BVdb publication page



The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget
Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ
Publication Date: 2016-10-18

Variant appearance in text: THSD7A: R1253Q
PubMed Link: 27612425
Variant Present in the following documents:
  • oncotarget-07-68638-s008.xlsx, sheet 1
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: THSD7A: R1253Q
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page