Basic Information

ERCC2

Full name: ERCC excision repair 2, TFIIH core complex helicase subunit

Gene type: protein coding

HGNC ID: HGNC:3434

Gene location: 19q13.32

Gene resources

NCBI: https://www.ncbi.nlm.nih.gov/gene/2068

Alliance of genome: https://www.alliancegenome.org/gene/HGNC:3434

MANE select: https://www.ncbi.nlm.nih.gov/gene/?term=NM_000400.4

Protein resources

UniProt/Swiss-Prot: https://www.uniprot.org/uniprot/P18074

AlphaFold: https://alphafold.ebi.ac.uk/entry/P18074

MEME motif:

Clinical resources

OMIM: https://www.omim.org/entry/126340

dbVar: https://www.ncbi.nlm.nih.gov/dbvar?LinkName=gene_dbvar&from_uid=2068

Pathway resources

KEGG pathway: https://www.genome.jp/pathway/hsa03022+2068

Variant resources

Gene	Disease type	Variant type	NCBI dbSNP	Alleles	Variant location
ERCC2		Missense Variant	rs1799793	C>A / C>T	chr19:45364001 (GRCh38.p13)
ERCC2		Stop Gained	rs13181	T>A / T>G	chr19:45351661 (GRCh38.p13)