Varaico: Literature-Extracted Genetic Variants

Gene:HMGB1
Variant:p.R110C

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
Selected Variant
2 papers
NM_002128.7
p.R110C
c.328C>T
Surrounding Variants
3 papers
NM_002128.7
p.R110G
c.328C>G
1 paper
NM_002128.7
p.Y109Y
c.327T>C
2 papers
NM_002128.7
p.R110H
c.329G>A
1 paper
NM_002128.7
p.E108G
c.323A>G
1 paper
NM_002128.7
p.K112E
c.334A>G
1 paper
NM_002128.7
p.S107A
c.319T>G
3 papers
NM_002128.7
p.I113T
c.338T>C
5 papers
NM_002128.7
p.C106S
c.317G>C
5 papers
NM_002128.7
p.C106S
c.316T>A
2 papers
NM_002128.7
p.K114E
c.340A>G
2 papers
NM_002128.7
p.K114delFs
c.342delT
2 papers
NM_002128.7
p.G115A
c.344G>C
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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."