HMGB1

high mobility group box 1

Summary

This gene encodes a protein that belongs to the High Mobility Group-box superfamily. The encoded non-histone, nuclear DNA-binding protein regulates transcription, and is involved in organization of DNA. This protein plays a role in several cellular processes, including inflammation, cell differentiation and tumor cell migration. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2015]

Known Variants23 total

rsidPosition (GRCh37)AllelesClassClinVar
rs136048513:31,031,884C/Tdownstream gene variant—
rs104541113:31,033,232C/T3 prime UTR variantbenign
rs102694508213:31,035,554A/C—uncertain significance
rs1044463213:31,035,563A/G—likely benign
rs20181327613:31,035,601T/C—likely benign
rs19083966813:31,035,633G/A—uncertain significance
rs454092713:31,036,544G/Aregulatory region variant—
rs374230513:31,036,642C/Gregulatory region variant—
rs106034813:31,036,837G/A—benign
rs117155934413:31,037,403G/A—likely benign
rs98372313:31,037,445T/C—benign
rs155523213113:31,037,792G/A—uncertain significance
rs55365440813:31,037,812G/C—likely benign
rs224982513:31,037,903G/T——
rs141212513:31,041,595C/G——
rs92812213:31,043,841C/Tintron variant—
rs414527713:31,057,682T/Cintron variant—
rs18598917213:31,065,226C/Tintron variant—
rs950875913:31,071,795G/C——
rs957958613:31,073,866G/A——
rs1161820213:31,113,379T/Gdownstream gene variant—
rs11647154713:31,119,089C/Tupstream gene variant—
rs798448313:31,131,084G/C——

Gene information from NCBI Gene. Variant classifications from ClinVar.