GAA c.2423C>T ;(p.P808L)

Variant ID: 17-78091490-C-T

NM_000152.3(GAA):c.2423C>T;(p.P808L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Virchows Archiv : An International Journal Of Pathology
Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A
Publication Date: 2022-02

Variant appearance in text: GAA: 2423C>T; P808L; rs773498009
PubMed Link: 34494161
Variant Present in the following documents:
  • 428_2021_3186_MOESM22_ESM.xlsx, sheet 1
  • 428_2021_3186_MOESM21_ESM.xlsx, sheet 1
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: GAA: P808L
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations.

Leukemia
Pillonel, V V; Juskevicius, D D; Ng, C K Y CKY; Bodmer, A A; Zettl, A A; Jucker, D D; Dirnhofer, S S; Tzankov, A A
Publication Date: 2018-11

Variant appearance in text: GAA: 2423C>T; Pro808Leu
PubMed Link: 29556019
Variant Present in the following documents:
  • 41375_2018_82_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page