Varaico: Literature-Extracted Genetic Variants

Gene:HMGB1
Variant:p.E179A

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
1 paper
NM_002128.7
p.E179A
c.536A>C
Surrounding Variants
1 paper
NM_002128.7
p.E179insFs
c.535_536insA
1 paper
NM_002128.7
p.A178D
c.533C>A
1 paper
NM_002128.7
p.K180I
c.539A>T
1 paper
NM_002128.7
p.K180_S181insFs
c.540_541insG
1 paper
NM_002128.7
p.S181G
c.541A>G
1 paper
NM_002128.7
p.V175L
c.523G>C
2 papers
NM_002128.7
p.K184fs
c.550_551fs
1 paper
NM_002128.7
p.G174A
c.521G>C
1 paper
NM_002128.7
p.K184fs
c.550_551fs
1 paper
NM_002128.7
p.K173insFs
c.518dupA
3 papers
NM_002128.7
p.K184_K185delFs
c.551_554del4
1 paper
NM_002128.7
p.E186K
c.556G>A
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