Varaico: Literature-Extracted Genetic Variants

Gene:HMGB1
Variant:p.K127E

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
3 papers
NM_002128.7
p.K127E
c.379A>G
Surrounding Variants
1 paper
NM_002128.7
p.K127R
c.380A>G
3 papers
NM_002128.7
p.K128E
c.382A>G
14 papers
NM_002128.7
p.V125D
c.374T>A
1 paper
NM_002128.7
p.K128N
c.384A>T
1 paper
NM_002128.7
p.K128N
c.384A>C
1 paper
NM_002128.7
p.D124E
c.372T>G
1 paper
NM_002128.7
p.E131E
c.393G>A
1 paper
NM_002128.7
p.N134D
c.400A>G
1 paper
NM_002128.7
p.N134S
c.401A>G
1 paper
NM_002128.7
p.G119C
c.355G>T
1 paper
NM_002128.7
p.P118S
c.352C>T
2 papers
NM_002128.7
p.P118A
c.352C>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."