Varaico: Literature-Extracted Genetic Variants

Gene:HMGB1
Variant:p.C23S

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.C23S
c.68G>C
Surrounding Variants
1 paper
NM_002128.7
p.C23S
c.67T>A
1 paper
NM_002128.7
p.T22N
c.65C>A
1 paper
NM_002128.7
p.E25K
c.73G>A
1 paper
NM_002128.7
p.Q21*
c.61C>T
1 paper
NM_002128.7
p.E26*
c.76G>T
1 paper
NM_002128.7
p.K30E
c.88A>G
1 paper
NM_002128.7
p.K30Q
c.88A>C
1 paper
NM_002128.7
p.Y16N
c.46T>A
1 paper
NM_002128.7
p.K30N
c.90G>T
1 paper
NM_002128.7
p.K30N
c.90G>C
1 paper
NM_002128.7
p.S15T
c.43T>A
1 paper
NM_002128.7
p.H31Q
c.93C>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."