CREBBP c.1538A>C ;(p.Q513P)

Variant ID: 16-3832720-T-G

NM_004380.2(CREBBP):c.1538A>C;(p.Q513P)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genomic Analysis of Cutaneous CD30-Positive Lymphoproliferative Disorders.

Jid Innovations
Abdulla, Farah R FR; Zhang, Weiwei W; Wu, Xiwei X; Honda, Kord K; Qin, Hanjun H; Cho, Hyejin H; Querfeld, Christiane C; Zain, Jasmine J; Rosen, Steven Terry ST; Chan, Wing C WC; Parekh, Vishwas V; Song, Joo Y JY
Publication Date: 2022-01

Variant appearance in text: CREBBP: Q513P
PubMed Link: 34977845
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Genomic Analysis of Cutaneous CD30-Positive Lymphoproliferative Disorders.

Jid Innovations : Skin Science From Molecules To Population Health
Abdulla, Farah R FR; Zhang, Weiwei W; Wu, Xiwei X; Honda, Kord K; Qin, Hanjun H; Cho, Hyejin H; Querfeld, Christiane C; Zain, Jasmine J; Rosen, Steven Terry ST; Chan, Wing C WC; Parekh, Vishwas V; Song, Joo Y JY
Publication Date: 2022-01

Variant appearance in text: CREBBP: Q513P
PubMed Link: 34977845
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Combating acquired resistance to MAPK inhibitors in melanoma by targeting Abl1/2-mediated reactivation of MEK/ERK/MYC signaling.

Nature Communications
Tripathi, Rakshamani R; Liu, Zulong Z; Jain, Aditi A; Lyon, Anastasia A; Meeks, Christina C; Richards, Dana D; Liu, Jinpeng J; He, Daheng D; Wang, Chi C; Nespi, Marika M; Rymar, Andrey A; Wang, Peng P; Wilson, Melissa M; Plattner, Rina R
Publication Date: 2020-10-29

Variant appearance in text: CREBBP: 1538A>C; Q513P
PubMed Link: 33122628
Variant Present in the following documents:
  • 41467_2020_19075_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page



Genetic modification of primary human B cells to model high-grade lymphoma.

Nature Communications
Caeser, Rebecca R; Di Re, Miriam M; Krupka, Joanna A JA; Gao, Jie J; Lara-Chica, Maribel M; Dias, João M L JML; Cooke, Susanna L SL; Fenner, Rachel R; Usheva, Zelvera Z; Runge, Hendrik F P HFP; Beer, Philip A PA; Eldaly, Hesham H; Pak, Hyo-Kyung HK; Park, Chan-Sik CS; Vassiliou, George S GS; Huntly, Brian J P BJP; Mupo, Annalisa A; Bashford-Rogers, Rachael J M RJM; Hodson, Daniel J DJ
Publication Date: 2019-10-04

Variant appearance in text: CREBBP: 1538A>C; Gln513Pro
PubMed Link: 31586074
Variant Present in the following documents:
  • 41467_2019_12494_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page