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PALB2 c.2275C>A ;(p.Q759K)
Variant ID: 16-23641200-G-T
NM_024675.3(
PALB2
):c.2275C>A;(p.Q759K)
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: 2275C>A; Q759K; rs515726083
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Germline mutations in PALB2 in African-American breast cancer cases.
Breast Cancer Research And Treatment
Ding, Yuan Chun YC; Steele, Linda L; Chu, Li-Hao LH; Kelley, Karen K; Davis, Helen H; John, Esther M EM; Tomlinson, Gail E GE; Neuhausen, Susan L SL
Publication Date: 2011-02
Variant appearance in text: PALB2: Q759K
PubMed Link:
21113654
Variant Present in the following documents:
Main text
View BVdb publication page