KEGG VARIANT: 1643v1

VARIANT: 1643v1

Entry

1643v1                      Variant

Name

DDB2 mutation

Type

Loss of function

Gene

DDB2 DNA damage-binding protein 2 isoform WT [KO:K10140]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutations
OmimVar: 600811

Network

nt06502 Nucleotide excision repair

Disease

H01428

Xeroderma pigmentosum

Reference

PMID:12812979

Authors

Rapic-Otrin V, Navazza V, Nardo T, Botta E, McLenigan M, Bisi DC, Levine AS, Stefanini M

Title

True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product.

Journal

Hum Mol Genet 12:1507-22 (2003)
DOI:10.1093/hmg/ddg174

LinkDB

DBGET integrated database retrieval system