TACSTD2 c.509C>A ;(p.S170*)

Variant ID: 1-59042320-G-T

NM_002353.2(TACSTD2):c.509C>A;(p.S170*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


TROP2 is epigenetically inactivated and modulates IGF-1R signalling in lung adenocarcinoma.

Embo Molecular Medicine
Lin, Jau-Chen JC; Wu, Yi-Ying YY; Wu, Jing-Yi JY; Lin, Tzu-Chieh TC; Wu, Chen-Tu CT; Chang, Yih-Leong YL; Jou, Yuh-Shan YS; Hong, Tse-Ming TM; Yang, Pan-Chyr PC
Publication Date: 2012-06

Variant appearance in text: TROP2: S170X
PubMed Link: 22419550
Variant Present in the following documents:
  • Main text
  • emmm0004-0472.pdf
View BVdb publication page



Identification and characterization of a novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy.

Molecular Vision
Paliwal, Preeti P; Gupta, Jaya J; Tandon, Radhika R; Sharma, Namrata N; Titiyal, Jeewan S JS; Kashyap, Seema S; Sen, Seema S; Kaur, Punit P; Dube, Divya D; Sharma, Arundhati A; Vajpayee, Rasik B RB
Publication Date: 2010-04-28

Variant appearance in text: TACSTD2: 509C>A; Ser170X
PubMed Link: 20454699
Variant Present in the following documents:
  • Main text
View BVdb publication page



The IC3D classification of the corneal dystrophies.

Cornea
Weiss, Jayne S JS; Møller, H U HU; Lisch, Walter W; Kinoshita, Shigeru S; Aldave, Anthony J AJ; Belin, Michael W MW; Kivelä, Tero T; Busin, Massimo M; Munier, Francis L FL; Seitz, Berthold B; Sutphin, John J; Bredrup, Cecilie C; Mannis, Mark J MJ; Rapuano, Christopher J CJ; Van Rij, Gabriel G; Kim, Eung Kweon EK; Klintworth, Gordon K GK
Publication Date: 2008-12

Variant appearance in text: M1S1: 509C>A
PubMed Link: 19337156
Variant Present in the following documents:
  • Main text
View BVdb publication page



Two novel mutations identified in two Chinese gelatinous drop-like corneal dystrophy families.

Molecular Vision
Zhang, Bei B; Yao, Yu-Feng YF; Zhou, Ping P
Publication Date: 2007-06-24

Variant appearance in text: N/A
PubMed Link: 17653040
Variant Present in the following documents:
View BVdb publication page