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Basic information

Official gene symbol
nibrin
Conventional gene symbol
AT-V1, AT-V2, ATV, NBS, NBS1, P95
Classification
Tumor suppressor gene
Official gene ID
4683(Refseq)
4683 (KEGG)
Transcript ID
NM_002485
Functional classification
Genome maintenance
Signaling pathway
Core DNA Damage Response
Chromosomal location
8q21.3 (chr8:90947810..90996789, complement)
Protein length
754

Chromosome ideogram

Pathway map

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
chr8:90996702 AGGCAGTCGCTACCGGGAAAATAGGCCCCGAGGCTTCCCTTCTGCCCTTACCTCCT A 1 / 16 p.G12fs c.33_37+50delAGGAGGTAAGGGCAGAAGGGAAGCCTCGGGGCCTATTTTCCCGGTAGCGACTGCC   Tier2 1 / 62
chr8:90967695 C A 10 / 16 p.E405* c.1213G>T   Tier2 1 / 62
chr8:90967737 G A 10 / 16 p.Q391* c.1171C>T   Tier2 1 / 62
chr8:90967761 C A 10 / 16 p.E383* c.1147G>T COSV55372888 Tier2 1 / 62
chr8:90955525 G A 14 / 16 p.R714* c.2140C>T COSV55377399 Tier2 2 / 62