DDB2

damage specific DNA binding protein 2

Summary

This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

Known Variants127 total

rsidPosition (GRCh37)AllelesClassClinVar
rs6189785811:47,235,263A/Tupstream gene variant—
rs375866611:47,236,294A/G—benign
rs375866711:47,236,298A/G—benign
rs423754711:47,236,405C/G—benign
rs57088485311:47,236,419C/T—likely benign
rs464770611:47,236,430G/T—likely benign
rs98136956011:47,236,545A/G—uncertain significance
rs56505880011:47,236,565T/G—uncertain significance
rs464770711:47,236,568G/Aregulatory region variantbenign
rs77715985411:47,236,632A/G—uncertain significance
rs20131762911:47,236,652G/A—uncertain significance
rs37584070211:47,236,657G/C—uncertain significance
rs136942750511:47,236,738A/G—likely benign
rs20122916711:47,236,739C/T—uncertain significance
rs77962130811:47,236,744C/A—likely benign
rs37362228311:47,236,746G/A—conflicting classifications of pathogenicity
rs195338378911:47,236,787G/T—conflicting classifications of pathogenicity
rs77581466211:47,236,790A/G—uncertain significance
rs19996545911:47,236,819T/G—conflicting classifications of pathogenicity
rs229112011:47,237,680T/Cregulatory region variantbenign
rs5631083011:47,237,803T/G—likely benign
rs18687000411:47,237,821C/T—likely benign
rs36955284911:47,237,879C/T—likely benign
rs127584726111:47,237,955T/G—uncertain significance
rs13967410211:47,237,959G/A—likely benign
rs19963023011:47,237,977T/A—uncertain significance
rs77092207411:47,238,013C/G—uncertain significance
rs37409421811:47,238,031A/G—conflicting classifications of pathogenicity
rs14472957211:47,238,425T/G—uncertain significance
rs123810734311:47,238,454T/C—likely benign
rs1153759411:47,238,463G/A—not provided
rs32621211:47,238,522T/T—benign
rs195340922511:47,238,558C/G—uncertain significance
rs254039383411:47,238,602T/C—likely pathogenic
rs54972669511:47,238,608G/C—benign
rs32621111:47,238,665A/G—benign
rs18935691611:47,241,411T/Cdownstream gene variant—
rs1229134111:47,242,761G/Aintron variant—
rs464772511:47,245,389T/Cupstream gene variant—
rs11145854611:47,246,848T/C——
rs7346763711:47,248,264A/Gupstream gene variant—
rs259639811:47,249,463G/A——
rs464773711:47,253,244T/Gintron variant—
rs83008311:47,254,051C/G—benign
rs464774211:47,254,288G/C—likely benign
rs75557923311:47,254,345T/G—likely benign
rs37564526111:47,254,358G/A—uncertain significance
rs195366828111:47,254,363A/C—likely pathogenic
rs127053362911:47,254,391G/A—likely benign
rs20170328811:47,254,419C/G—conflicting classifications of pathogenicity
rs76032228011:47,254,441A/C—uncertain significance
rs144084498611:47,254,448A/G—likely benign
rs19982250411:47,254,482C/T—pathogenic
rs76331343111:47,254,483G/A—uncertain significance
rs20040655811:47,254,485G/A—likely benign
rs76785415011:47,254,504C/A—uncertain significance
rs5604255411:47,254,530G/A—benign
rs464774411:47,254,602G/A—benign
rs464774511:47,254,699C/T—benign
rs32622311:47,255,903A/G—benign
rs14516799811:47,255,974C/T—likely benign
rs464774911:47,255,989C/T—likely benign
rs213551167511:47,256,120C/G—uncertain significance
rs140272933311:47,256,127C/A—likely benign
rs75307022311:47,256,140C/T—conflicting classifications of pathogenicity
rs14498946511:47,256,161C/Tstop gainedpathogenic
rs464775011:47,256,165T/C—likely benign
rs75426138411:47,256,173A/G—uncertain significance
rs20208303711:47,256,195T/C—uncertain significance
rs13932556311:47,256,210T/C—uncertain significance
rs77467531011:47,256,215G/A—uncertain significance
rs121885910211:47,256,224G/T—pathogenic
rs36764858611:47,256,227C/T—uncertain significance
rs76460605811:47,256,228G/A—uncertain significance
rs5584770811:47,256,235G/A—conflicting classifications of pathogenicity
rs76555115611:47,256,292G/C—likely benign
rs12143463911:47,256,335A/Gmissense variantpathogenic
rs14426668511:47,256,343G/A—likely benign
rs195370130711:47,256,399A/G—uncertain significance
rs12143464011:47,256,423G/Amissense variantpathogenic
rs130827539711:47,256,428G/A—uncertain significance
rs195370203411:47,256,457G/A—uncertain significance
rs213551228911:47,256,474C/T—uncertain significance
rs37678302411:47,256,475T/C—likely benign
rs77850497911:47,256,481C/T—uncertain significance
rs464775211:47,256,682A/G—likely benign
rs230635311:47,256,708C/T—benign
rs13795892911:47,256,834C/T—likely benign
rs76169936311:47,256,845G/A—uncertain significance
rs75819954711:47,256,855C/G—likely benign
rs14088671411:47,256,858G/A—likely benign
rs12143464211:47,256,859G/Tmissense variantpathogenic
rs54904155811:47,256,870C/T—conflicting classifications of pathogenicity
rs12143464111:47,256,877C/Tstop gainedpathogenic
rs102276920211:47,256,878G/A—uncertain significance
rs77607572811:47,256,919A/T—uncertain significance
rs13825513411:47,256,924G/A—conflicting classifications of pathogenicity
rs159100161911:47,256,925C/T—uncertain significance
rs37284282111:47,256,972C/T—uncertain significance
rs378162011:47,259,264G/C—benign

Showing 100 of 127 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.