CDH1 c.2265T>A ;(p.Y755*)

Variant ID: 16-68862177-T-A

NM_004360.3(CDH1):c.2265T>A;(p.Y755*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Multilevel proteomic analyses reveal molecular diversity between diffuse-type and intestinal-type gastric cancer.

Nature Communications
Shi, Wenhao W; Wang, Yushen Y; Xu, Chen C; Li, Yan Y; Ge, Sai S; Bai, Bin B; Zhang, Kecheng K; Wang, Yunzhi Y; Zheng, Nairen N; Wang, Juan J; Wang, Shiqi S; Ji, Gang G; Li, Jipeng J; Nie, Yongzhan Y; Liang, Wenquan W; Wu, Xiaosong X; Cui, Jianxin J; Wang, Yi Y; Chen, Lin L; Zhao, Qingchuan Q; Shen, Lin L; He, Fuchu F; Qin, Jun J; Ding, Chen C
Publication Date: 2023-02-14

Variant appearance in text: CDH1: Tyr755*
PubMed Link: 36788224
Variant Present in the following documents:
  • 41467_2023_35797_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: CDH1: 2265T>A; Tyr755Ter
PubMed Link: 36755093
Variant Present in the following documents:
  • 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Medicine
Kanavy, Dona M DM; McNulty, Shannon M SM; Jairath, Meera K MK; Brnich, Sarah E SE; Bizon, Chris C; Powell, Bradford C BC; Berg, Jonathan S JS
Publication Date: 2019-11-29

Variant appearance in text: CDH1: 2265T>A; Tyr755Ter
PubMed Link: 31783775
Variant Present in the following documents:
  • 13073_2019_683_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A proteomic landscape of diffuse-type gastric cancer.

Nature Communications
Ge, Sai S; Xia, Xia X; Ding, Chen C; Zhen, Bei B; Zhou, Quan Q; Feng, Jinwen J; Yuan, Jiajia J; Chen, Rui R; Li, Yumei Y; Ge, Zhongqi Z; Ji, Jiafu J; Zhang, Lianhai L; Wang, Jiayuan J; Li, Zhongwu Z; Lai, Yumei Y; Hu, Ying Y; Li, Yanyan Y; Li, Yilin Y; Gao, Jing J; Chen, Lin L; Xu, Jianming J; Zhang, Chunchao C; Jung, Sung Yun SY; Choi, Jong Min JM; Jain, Antrix A; Liu, Mingwei M; Song, Lei L; Liu, Wanlin W; Guo, Gaigai G; Gong, Tongqing T; Huang, Yin Y; Qiu, Yang Y; Huang, Wenwen W; Shi, Tieliu T; Zhu, Weimin W; Wang, Yi Y; He, Fuchu F; Shen, Lin L; Qin, Jun J
Publication Date: 2018-03-08

Variant appearance in text: CDH1: Tyr755*
PubMed Link: 29520031
Variant Present in the following documents:
  • 41467_2018_3121_MOESM5_ESM.xlsx, sheet 8
View BVdb publication page