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BRCA1 c.1216_1217delinsGC ;(p.N406A)
Variant ID: 17-41246331-TT-GC
NM_007294.3(
BRCA1
):c.1216_1217delinsGC;(p.N406A)
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:
BRN2 suppresses apoptosis, reprograms DNA damage repair, and is associated with a high somatic mutation burden in melanoma.
Genes & Development
Herbert, Katharine K; Binet, Romuald R; Lambert, Jean-Philippe JP; Louphrasitthiphol, Pakavarin P; Kalkavan, Halime H; Sesma-Sanz, Laura L; Robles-Espinoza, Carla Daniela CD; Sarkar, Sovan S; Suer, Eda E; Andrews, Sarah S; Chauhan, Jagat J; Roberts, Nicola D ND; Middleton, Mark R MR; Gingras, Anne-Claude AC; Masson, Jean-Yves JY; Larue, Lionel L; Falletta, Paola P; Goding, Colin R CR
Publication Date: 2019-03-01
Variant appearance in text: BRCA1: N406A
PubMed Link:
30804224
Variant Present in the following documents:
Main text
310.pdf
View BVdb publication page