Varaico: Literature-Extracted Genetic Variants

Gene:HMGB1
Variant:p.K165E

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.K165E
c.493A>G
Surrounding Variants
1 paper
NM_002128.7
p.A164G
c.491C>G
1 paper
NM_002128.7
p.G166R
c.496G>C
1 paper
NM_002128.7
p.R163G
c.487C>G
3 papers
NM_002128.7
p.Y162S
c.485A>C
1 paper
NM_002128.7
p.P168L
c.503C>T
1 paper
NM_002128.7
p.A170T
c.508G>A
1 paper
NM_002128.7
p.A170V
c.509C>T
1 paper
NM_002128.7
p.A170G
c.509C>G
1 paper
NM_002128.7
p.A171S
c.511G>T
1 paper
NM_002128.7
p.K173insFs
c.518dupA
1 paper
NM_002128.7
p.G174A
c.521G>C
1 paper
NM_002128.7
p.V175L
c.523G>C
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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."