PSEN1 c.445_446delinsGC ;(p.L149A)

Variant ID: 14-73640380-CT-GC

NM_000021.3(PSEN1):c.445_446delinsGC;(p.L149A)

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:

The presence of the ACA box in archaeal H/ACA guide RNAs promotes atypical pseudouridylation.

Rna (New York, N.Y.)
Majumder, Mrinmoyee M; Mukhopadhyay, Shaoni S; Kharel, Parinati P; Gupta, Ramesh R
Publication Date: 2020-04

Variant appearance in text: PS1: L149A
PubMed Link: 31919243
Variant Present in the following documents:
  • Main text
  • 396.pdf
View BVdb publication page