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ERCC2

Basic information

Official gene symbol
ERCC excision repair 2, TFIIH core complex helicase subunit
Conventional gene symbol
COFS2, EM9, TFIIH, TTD, TTD1, XPD
Classification
Tumor suppressor gene
Official gene ID
2068(Refseq)
2068 (KEGG)
Transcript ID
NM_000400
Functional classification
Genome maintenance
Signaling pathway
Core DNA Damage Response
Chromosomal location
19q13.32 (chr19:45854887..45873798, complement)
Protein length
760

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
chr19:45873425 T C 2 / 23 p.Y24C c.71A>G COSV55539873 Tier2 1 / 59
chr19:45867687 T C 8 / 23 p.N238S c.713A>G COSV55538701 Tier2 1 / 59
chr19:45860556 G A 15 / 23 p.T484M c.1451C>T COSV67263499 Tier2 1 / 59
chr19:45856532 C T 18 / 23 p.E576K c.1726G>A COSV67267388 Tier2 1 / 59