Varaico: Literature-Extracted Genetic Variants

Gene:HMGB1

HMGB1

211 papers

RefSeq 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 DN...

Pfam Domains

HMG_box_2aa 6–79UCSCHMG-box domain
HMG_boxaa 95–163UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

high mobility group box 1

HGNC Previous Symbol

HMG1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 194 variants
15 papers
NM_002128.7
p.P143P
c.429T>C
14 papers
NM_002128.7
p.V125D
c.374T>A
5 papers
NM_002128.7
p.C106S
c.316T>A
5 papers
NM_002128.7
p.C106S
c.317G>C
4 papers
NM_002128.7
p.F103S
c.308T>C
4 papers
NM_002128.7
p.A149E
c.446C>A
4 papers
NM_002128.7
p.E210D
c.630A>T
4 papers
NM_002128.7
p.E210D
c.630A>C
3 papers
NM_002128.7
p.G11R
c.31G>C
3 papers
NM_002128.7
p.R110G
c.328C>G
3 papers
NM_002128.7
p.I113T
c.338T>C
3 papers
NM_002128.7
p.K127E
c.379A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."