TG c.3976_3978inv ;(p.T1326C)

Variant ID: 8-133920559-ACA-TGT

NM_003235.4(TG):c.3976_3978inv;(p.T1326C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of molecular heterogeneity in SNX27-retromer-mediated endosome-to-plasma-membrane recycling.

Journal Of Cell Science
McGough, Ian J IJ; Steinberg, Florian F; Gallon, Matthew M; Yatsu, Ayaka A; Ohbayashi, Norihiko N; Heesom, Kate J KJ; Fukuda, Mitsunori M; Cullen, Peter J PJ
Publication Date: 2014-11-15

Variant appearance in text: TGN: T1326C
PubMed Link: 25278552
Variant Present in the following documents:
  • Main text
View BVdb publication page



Retromer binding to FAM21 and the WASH complex is perturbed by the Parkinson disease-linked VPS35(D620N) mutation.

Current Biology : Cb
McGough, Ian J IJ; Steinberg, Florian F; Jia, Da D; Barbuti, Peter A PA; McMillan, Kirsty J KJ; Heesom, Kate J KJ; Whone, Alan L AL; Caldwell, Maeve A MA; Billadeau, Daniel D DD; Rosen, Michael K MK; Cullen, Peter J PJ
Publication Date: 2014-07-21

Variant appearance in text: TGN: T1326C
PubMed Link: 24980502
Variant Present in the following documents:
  • mmc4.pdf
View BVdb publication page