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PALB2 c.1190C>T ;(p.T397I)
Variant ID: 16-23646677-G-A
NM_024675.3(
PALB2
):c.1190C>T;(p.T397I)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: PALB2: 1190C>T; T397I; rs587781319
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Functional characterization of 84 PALB2 variants of uncertain significance.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wiltshire, Timothy T; Ducy, Mandy M; Foo, Tzeh Keong TK; Hu, Chunling C; Lee, Kun Y KY; Belur Nagaraj, Anil A; Rodrigue, Amélie A; Gomes, Thiago T TT; Simard, Jacques J; Monteiro, Alvaro N A ANA; Xia, Bing B; Carvalho, Marcelo A MA; Masson, Jean-Yves JY; Couch, Fergus J FJ
Publication Date: 2020-03
Variant appearance in text: PALB2: 1190C>T; Thr397Ile
PubMed Link:
31636395
Variant Present in the following documents:
Main text
41436_2019_Article_682.pdf
View BVdb publication page