PSEN1 c.1255T>A ;(p.C419S)

Variant ID: 14-73685848-T-A

NM_000021.3(PSEN1):c.1255T>A;(p.C419S)

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:

Deducing the transmembrane domain organization of presenilin-1 in gamma-secretase by cysteine disulfide cross-linking.

Biochemistry
Kornilova, Anna Y AY; Kim, Jennifer J; Laudon, Hanna H; Wolfe, Michael S MS
Publication Date: 2006-06-20

Variant appearance in text: PS1: C419S
PubMed Link: 16768455
Variant Present in the following documents:
  • Main text
View BVdb publication page