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NF2

Basic information

Official gene symbol
neurofibromin 2
Conventional gene symbol
ACN, BANF, SCH
Classification
Tumor suppressor gene
Official gene ID
4771(Refseq)
4771 (KEGG)
Transcript ID
NM_000268
Functional classification
Tumor growth and progression
Signaling pathway
Hippo
Chromosomal location
22q12.2 (chr22:29999988..30090791)
Protein length
595

Chromosome ideogram

Frequency of somatic alterationsTumor type

Base substitutions, insertions, and deletions

Copy number alterations

Distribution of tumor mutation burdenTMB

List of driver somatic mutations

Genomic Coordinates (GRCh37/hg19) Reference Variant Exon Amino Acid change Coding DNA change COSMIC (v92) Classification No. of Samples
chr22:30000022 GCT G 1 / 16 p.L14fs c.41_42delTC COSV58519914 Tier2 1 / 60
chr22:30000085 T TG 1 / 16 p.E34fs c.100dupG   Tier2 1 / 60
chr22:30000087 GA G 1 / 16 p.E34fs c.101delA   Tier2 1 / 60
chr22:30000090 TTCAATTGC T 1 / 16 p.F35fs c.104_111delTCAATTGC   Tier2 1 / 60
chr22:30032762 T G 2 / 16 p.L46R c.137T>G COSV58521775 Tier2 1 / 60
chr22:30032794 C T 2 / 16 p.R57* c.169C>T COSV58519659 Tier1 3 / 60
chr22:30051642 C G 6 / 16 p.Y192* c.576C>G COSV58520186 Tier2 1 / 60
chr22:30054188 G T 7 / 16 p.E204* c.610G>T   Tier2 1 / 60
chr22:30057200 A T 8 / 16 p.K228* c.682A>T   Tier2 1 / 60
chr22:30057220 TG T 8 / 16 p.G235fs c.704delG   Tier2 1 / 60
chr22:30057292 G A 8 / 16 p.W258* c.774G>A COSV58522089 Tier2 1 / 60
chr22:30067845 C T 11 / 16 p.Q344* c.1030C>T   Tier2 1 / 60
chr22:30069429 G GT 12 / 16 p.E432fs c.1294_1295insT   Tier2 1 / 60
chr22:30070909 TGCCACCAAGCCCACGTACCCGGTGAGCCTGGGG T 13 / 16 p.K478fs c.1433_1446+19delAGCCCACGTACCCGGTGAGCCTGGGGGCCACCA   Tier2 1 / 60
chr22:30074300 TAGAG T 14 / 16 p.E522fs c.1564_1567delGAGA COSV58528483 Tier2 1 / 60