NOTCH1 c.1511G>A ;(p.R504H)

Variant ID: 9-139411768-C-T

NM_017617.3(NOTCH1):c.1511G>A;(p.R504H)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


The Notch1/CD22 signaling axis disrupts Treg cell function in SARS-CoV2-associated multisystem inflammatory syndrome in children.

The Journal Of Clinical Investigation
Benamar, Mehdi M; Chen, Qian Q; Chou, Janet J; Julé, Amélie M AM; Boudra, Rafik R; Contini, Paola P; Crestani, Elena E; Lai, Peggy S PS; Wang, Muyun M; Fong, Jason J; Rockwitz, Shira S; Lee, Pui Y PY; Chan, Tsz Man Fion TMF; Altun, Ekin Zeynep EZ; Kepenekli, Eda E; Karakoc-Aydiner, Elif E; Ozen, Ahmet A; Boran, Perran P; Aygun, Fatih F; Önal, Pınar P; Kilinc Sakalli, Ayse Ayzit AA; Cokugras, Haluk H; Gelmez, Metin Yusuf MY; Oktelik, Fatma B FB; Cetin Aktas, Esin E; Zhong, Yuelin Y; Taylor, Maria L ML; Irby, Katherine K; Halasa, Natasha B NB; Mack, Elizabeth H EH; Signa, Sara S; Prigione, Ignazia I; Gattorno, Marco M; Cotugno, Nicola N; Amodio, Donato D; Geha, Raif S RS; Son, Mary Beth MB; Newburger, Jane W JW; Agrawal, Pankaj B PB; Volpi, Stefano S; Palma, Paolo P; Kiykim, Ayca A; Randolph, Adrienne A; Deniz, Gunnur G; Baris, Safa S; De Palma, Raffaele R; Schmitz-Abe, Klaus K; Charbonnier, Louis-Marie LM; Henderson, Lauren A LA; Chatila, Talal A TA
Publication Date: 2022-10-25

Variant appearance in text: NOTCH1: 1511G>A; Arg504His
PubMed Link: 36282598
Variant Present in the following documents:
  • jci-133-163235-s084.xlsx, sheet 1
View BVdb publication page



Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: NOTCH1: R504H
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.

Molecular Oncology
Zhang, Lanxin L; Sun, Siwen S; Zhao, Xiaotian X; Liu, Jingwen J; Xu, Yang Y; Xu, Lingzhi L; Song, Chen C; Li, Na N; Yu, Jing J; Zhao, Shanshan S; Yu, Peiyao P; Fang, Fengqi F; Xie, Jiping J; Ji, Xuening X; Yu, Ruoying R; Ou, Qiuxiang Q; Zhao, Zuowei Z; Li, Man M
Publication Date: 2022-10

Variant appearance in text: NOTCH1: 1511G>A; R504H
PubMed Link: 35971249
Variant Present in the following documents:
  • MOL2-16-3689-s003.xlsx, sheet 1
View BVdb publication page



Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.

Heart (British Cardiac Society)
Debiec, Radoslaw Marek RM; Hamby, Stephen E SE; Jones, Peter D PD; Safwan, Kassem K; Sosin, Michael M; Hetherington, Simon Lee SL; Sprigings, David D; Sharman, David D; Lee, Kelvin K; Salahshouri, Pegah P; Wheeldon, Nigel N; Chukwuemeka, Andrew A; Boutziouka, Vasiliki V; Elamin, Mohamed M; Coolman, Sue S; Asiani, Manish M; Kharodia, Shireen S; Skinner, Gregory J GJ; Samani, Nilesh J NJ; Webb, Tom R TR; Bolger, Aidan P AP
Publication Date: 2022-06-24

Variant appearance in text: NOTCH1: 1511G>A; Arg504His; rs201768800
PubMed Link: 35288444
Variant Present in the following documents:
  • heartjnl-2021-320428supp001.pdf
View BVdb publication page



Aortic root aortopathy in bicuspid aortic valve associated with high genetic risk.

Bmc Cardiovascular Disorders
Ma, Mingjia M; Li, Zongzhe Z; Mohamed, Mohamed Abdulkadir MA; Liu, Ligang L; Wei, Xiang X
Publication Date: 2021-08-30

Variant appearance in text: NOTCH1: 1511G>A; Arg504His; rs201768800
PubMed Link: 34461831
Variant Present in the following documents:
  • 12872_2021_2215_MOESM1_ESM.pdf
View BVdb publication page



Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.

Scientific Reports
Choi, Yoon Young YY; Shin, Su-Jin SJ; Lee, Jae Eun JE; Madlensky, Lisa L; Lee, Seung-Tae ST; Park, Ji Soo JS; Jo, Jeong-Hyeon JH; Kim, Hyunki H; Nachmanson, Daniela D; Xu, Xiaojun X; Noh, Sung Hoon SH; Cheong, Jae-Ho JH; Harismendy, Olivier O
Publication Date: 2021-07-20

Variant appearance in text: NOTCH1: R504H
PubMed Link: 34285288
Variant Present in the following documents:
  • 41598_2021_94292_MOESM1_ESM.xlsx, sheet 6
View BVdb publication page



Patient-derived organoids in cellulosic sponge model chemotherapy response of metastatic colorectal cancer.

Clinical And Translational Medicine
Xu, Yanjie Y; Chen, Jianjun J; Huang, Yizhou Y; Luo, Yang Y; Hsieh, An-Chih AC; Chen, Jianyi J; Li, Han H; Wei, Xunbin X; Gao, Wei-Qiang WQ; Zhong, Ming M; Zhang, Yan Y
Publication Date: 2021-01

Variant appearance in text: NOTCH1: R504H; rs201768800
PubMed Link: 33463056
Variant Present in the following documents:
  • CTM2-11-e285-s003.xlsx, sheet 24
View BVdb publication page



Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease.

Molecular Genetics & Genomic Medicine
Musfee, Fadi I FI; Guo, Dongchuan D; Pinard, Amélie C AC; Hostetler, Ellen M EM; Blue, Elizabeth E EE; Nickerson, Deborah A DA; , ; Bamshad, Michael J MJ; Milewicz, Dianna M DM; Prakash, Siddharth K SK
Publication Date: 2020-10

Variant appearance in text: NOTCH1: Arg504His
PubMed Link: 32748548
Variant Present in the following documents:
  • Main text
  • MGG3-8-e1406.pdf
View BVdb publication page



Comprehensive pharmacogenomic characterization of gastric cancer.

Genome Medicine
Sa, Jason K JK; Hong, Jung Yong JY; Lee, In-Kyoung IK; Kim, Ju-Sun JS; Sim, Moon-Hee MH; Kim, Ha Jung HJ; An, Ji Yeong JY; Sohn, Tae Sung TS; Lee, Joon Ho JH; Bae, Jae Moon JM; Kim, Sung S; Kim, Kyoung-Mee KM; Kim, Seung Tae ST; Park, Se Hoon SH; Park, Joon Oh JO; Lim, Ho Yeong HY; Kang, Won Ki WK; Her, Nam-Gu NG; Lee, Yeri Y; Cho, Hee Jin HJ; Shin, Yong Jae YJ; Kim, Misuk M; Koo, Harim H; Kim, Mirinae M; Seo, Yun Jee YJ; Kim, Ja Yeon JY; Choi, Min-Gew MG; Nam, Do-Hyun DH; Lee, Jeeyun J
Publication Date: 2020-02-18

Variant appearance in text: NOTCH1: R504H
PubMed Link: 32070411
Variant Present in the following documents:
  • 13073_2020_717_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.

Nature Communications
Su, Dan D; Zhang, Dadong D; Jin, Jiaoyue J; Ying, Lisha L; Han, Miao M; Chen, Kaiyan K; Li, Bin B; Wu, Junzhou J; Xie, Zhenghua Z; Zhang, Fanrong F; Lin, Yihui Y; Cheng, Guoping G; Li, Jing-Yu JY; Huang, Minran M; Wang, Jinchao J; Wang, Kailai K; Zhang, Jianjun J; Li, Fugen F; Xiong, Lei L; Futreal, Andrew A; Mao, Weimin W
Publication Date: 2019-11-07

Variant appearance in text: NOTCH1: 1511G>A; Arg504Gln
PubMed Link: 31700061
Variant Present in the following documents:
  • 41467_2019_12846_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: NOTCH1: 1511G>A; R504H
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Telomere alterations in neurofibromatosis type 1-associated solid tumors.

Acta Neuropathologica Communications
Rodriguez, Fausto J FJ; Graham, Mindy K MK; Brosnan-Cashman, Jacqueline A JA; Barber, John R JR; Davis, Christine C; Vizcaino, M Adelita MA; Palsgrove, Doreen N DN; Giannini, Caterina C; Pekmezci, Melike M; Dahiya, Sonika S; Gokden, Murat M; Noë, Michael M; Wood, Laura D LD; Pratilas, Christine A CA; Morris, Carol D CD; Belzberg, Allan A; Blakeley, Jaishri J; Heaphy, Christopher M CM
Publication Date: 2019-08-28

Variant appearance in text: NOTCH1: R504H
PubMed Link: 31462295
Variant Present in the following documents:
  • 40478_2019_792_MOESM1_ESM.pdf
View BVdb publication page



Mutational and putative neoantigen load predict clinical benefit of adoptive T cell therapy in melanoma.

Nature Communications
Lauss, Martin M; Donia, Marco M; Harbst, Katja K; Andersen, Rikke R; Mitra, Shamik S; Rosengren, Frida F; Salim, Maryem M; Vallon-Christersson, Johan J; Törngren, Therese T; Kvist, Anders A; Ringnér, Markus M; Svane, Inge Marie IM; Jönsson, Göran G
Publication Date: 2017-11-23

Variant appearance in text: NOTCH1: 1511G>A
PubMed Link: 29170503
Variant Present in the following documents:
  • 41467_2017_1460_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.

Genome Medicine
Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA
Publication Date: 2017-05-24

Variant appearance in text: NOTCH1: R504H
PubMed Link: 28539123
Variant Present in the following documents:
  • 13073_2017_434_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page