Varaico: Literature-Extracted Genetic Variants

Gene:HMGB1
Variant:p.E210D

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
4 papers
NM_002128.7
p.E210D
c.630A>C
Surrounding Variants
4 papers
NM_002128.7
p.E210D
c.630A>T
1 paper
NM_002128.7
p.D211G
c.632A>G
2 papers
NM_002128.7
p.D211E
c.633T>G
2 papers
NM_002128.7
p.D211E
c.633T>A
2 papers
NM_002128.7
p.E210del1
c.628_629delTTC
2 papers
NM_002128.7
p.E209D
c.627A>T
2 papers
NM_002128.7
p.E209D
c.627A>C
1 paper
NM_002128.7
p.E209*
c.625G>T
1 paper
NM_002128.7
p.D212E
c.636T>G
1 paper
NM_002128.7
p.D212E
c.636T>A
1 paper
NM_002128.7
p.E208G
c.623A>G
1 paper
NM_002128.7
p.D207E
c.621T>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."