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NF1 c.1153_1155delinsAAG ;(p.R385K)
Variant ID: 17-29528145-CGT-AAG
NM_001042492.2(
NF1
):c.1153_1155delinsAAG;(p.R385K)
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:
SETD2 mutations in primary central nervous system tumors.
Acta Neuropathologica Communications
Viaene, Angela N AN; Santi, Mariarita M; Rosenbaum, Jason J; Li, Marilyn M MM; Surrey, Lea F LF; Nasrallah, MacLean P MP
Publication Date: 2018-11-12
Variant appearance in text: NF1: R385K
PubMed Link:
30419952
Variant Present in the following documents:
Main text
View BVdb publication page