Varaico: Literature-Extracted Genetic Variants

Gene:HMGB1
Variant:p.E186fs

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.E186fs
c.556_557fs
Surrounding Variants
1 paper
NM_002128.7
p.E186K
c.556G>A
3 papers
NM_002128.7
p.K184_K185delFs
c.551_554del4
1 paper
NM_002128.7
p.E187K
c.559G>A
1 paper
NM_002128.7
p.K184fs
c.550_551fs
2 papers
NM_002128.7
p.E186_E187delFs
c.556_559del4
1 paper
NM_002128.7
p.E187delFs
c.560delT
1 paper
NM_002128.7
p.E188K
c.562G>A
2 papers
NM_002128.7
p.K184fs
c.550_551fs
1 paper
NM_002128.7
p.E189G
c.566A>G
1 paper
NM_002128.7
p.D190E
c.570T>G
1 paper
NM_002128.7
p.D190E
c.570T>A
1 paper
NM_002128.7
p.S181G
c.541A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."