UVRAG c.1922C>T ;(p.T641I)

Variant ID: 11-75852279-C-T

NM_003369.3(UVRAG):c.1922C>T;(p.T641I)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports
Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J
Publication Date: 2021-11-23

Variant appearance in text: UVRAG: 1922C>T; T641I; rs200438816
PubMed Link: 34818533
Variant Present in the following documents:
  • NIHMS1761779-supplement-Table_S8.xlsx, sheet 1
View BVdb publication page


A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports
Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J
Publication Date: 2021-11-23

Variant appearance in text: UVRAG: 1922C>T; T641I; rs200438816
PubMed Link: 34818533
Variant Present in the following documents:
  • NIHMS1761779-supplement-Table_S8.xlsx, sheet 1
View BVdb publication page


Exome analysis of a family with pleiotropic congenital heart disease.

Circulation. Cardiovascular Genetics
Arrington, Cammon B CB; Bleyl, Steven B SB; Matsunami, Norisada N; Bonnell, Gabriel D GD; Otterud, Brith E M BE; Nielsen, Douglas C DC; Stevens, Jeffrey J; Levy, Shawn S; Leppert, Mark F MF; Bowles, Neil E NE
Publication Date: 2012-04-01

Variant appearance in text: UVRAG: T641I
PubMed Link: 22337856
Variant Present in the following documents:
  • Main text
View BVdb publication page