RUNX2 c.191A>T ;(p.Q64L)

Variant ID: 6-45390462-A-T

NM_001024630.3(RUNX2):c.191A>T;(p.Q64L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Proteasomal degradation within endocytic organelles mediates antigen cross-presentation.

The Embo Journal
Sengupta, Debrup D; Graham, Morven M; Liu, Xinran X; Cresswell, Peter P
Publication Date: 2019-08-15

Variant appearance in text: CCD: Q64L
PubMed Link: 31271236
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rheb protein binds CAD (carbamoyl-phosphate synthetase 2, aspartate transcarbamoylase, and dihydroorotase) protein in a GTP- and effector domain-dependent manner and influences its cellular localization and carbamoyl-phosphate synthetase (CPSase) activity.

The Journal Of Biological Chemistry
Sato, Tatsuhiro T; Akasu, Hitomi H; Shimono, Wataru W; Matsu, Chisa C; Fujiwara, Yuki Y; Shibagaki, Yoshio Y; Heard, Jeffrey J JJ; Tamanoi, Fuyuhiko F; Hattori, Seisuke S
Publication Date: 2015-01-09

Variant appearance in text: CCD: Q64L
PubMed Link: 25422319
Variant Present in the following documents:
  • Main text
View BVdb publication page



Orange fluorescent proteins: structural studies of LSSmOrange, PSmOrange and PSmOrange2.

Plos One
Pletnev, Sergei S; Shcherbakova, Daria M DM; Subach, Oksana M OM; Pletneva, Nadya V NV; Malashkevich, Vladimir N VN; Almo, Steven C SC; Dauter, Zbigniew Z; Verkhusha, Vladislav V VV
Publication Date: 2014

Variant appearance in text: CCD: Q64L
PubMed Link: 24960050
Variant Present in the following documents:
  • Main text
  • pone.0099136.pdf
View BVdb publication page



Structure-guided mutation of the conserved G3-box glycine in Rheb generates a constitutively activated regulator of mammalian target of rapamycin (mTOR).

The Journal Of Biological Chemistry
Mazhab-Jafari, Mohammad T MT; Marshall, Christopher B CB; Ho, Jason J; Ishiyama, Noboru N; Stambolic, Vuk V; Ikura, Mitsuhiko M
Publication Date: 2014-05-02

Variant appearance in text: CCD: Q64L
PubMed Link: 24648513
Variant Present in the following documents:
  • Main text
View BVdb publication page



Defects in cytokinesis, actin reorganization and the contractile vacuole in cells deficient in RhoGDI.

The Embo Journal
Rivero, Francisco F; Illenberger, Daria D; Somesh, Baggavalli P BP; Dislich, Heidrun H; Adam, Nicola N; Meyer, Ann-Kathrin AK
Publication Date: 2002-09-02

Variant appearance in text: CCD: Q64L
PubMed Link: 12198156
Variant Present in the following documents:
  • Main text
View BVdb publication page