PSEN1 c.905A>C ;(p.D302A)

Variant ID: 14-73673130-A-C

NM_000021.3(PSEN1):c.905A>C;(p.D302A)

This variant was identified in 1 publication

View GRCh38 version.



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

Publications:

Assembly of γ-secretase occurs through stable dimers after exit from the endoplasmic reticulum.

The Journal Of Cell Biology
Wouters, Rosanne R; Michiels, Christine C; Sannerud, Ragna R; Kleizen, Bertrand B; Dillen, Katleen K; Vermeire, Wendy W; Ayala, Abril Escamilla AE; Demedts, David D; Schekman, Randy R; Annaert, Wim W
Publication Date: 2021-09-06

Variant appearance in text: PSEN1: D302A
PubMed Link: 34292306
Variant Present in the following documents:
  • Main text
  • JCB_201911104.pdf
View BVdb publication page