Varaico: Literature-Extracted Genetic Variants

Gene:HMGB1
Variant:p.S46P

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.S46P
c.136T>C
Surrounding Variants
1 paper
NM_002128.7
p.C45S
c.134G>C
1 paper
NM_002128.7
p.S46S
c.138A>T
1 paper
NM_002128.7
p.C45R
c.133T>C
1 paper
NM_002128.7
p.C45S
c.133T>A
1 paper
NM_002128.7
p.E47*
c.139G>T
1 paper
NM_002128.7
p.K44K
c.132G>A
1 paper
NM_002128.7
p.R48K
c.143G>A
1 paper
NM_002128.7
p.R48R
c.144G>A
1 paper
NM_002128.7
p.W49R
c.145T>C
1 paper
NM_002128.7
p.W49R
c.145T>A
1 paper
NM_002128.7
p.S39*
c.116C>G
1 paper
NM_002128.7
p.S39A
c.115T>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."