PSEN1 c.1257C>T ;(p.C419=)

Variant ID: 14-73685850-C-T

NM_000021.3(PSEN1):c.1257C>T;(p.C419=)

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:

Contribution of the γ-secretase subunits to the formation of catalytic pore of presenilin 1 protein.

The Journal Of Biological Chemistry
Takeo, Koji K; Watanabe, Naoto N; Tomita, Taisuke T; Iwatsubo, Takeshi T
Publication Date: 2012-07-27

Variant appearance in text: PS1: C419C
PubMed Link: 22689582
Variant Present in the following documents:
  • Main text
View BVdb publication page