Varaico: Literature-Extracted Genetic Variants

Gene:HMGB1
Variant:p.E194K

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.E194K
c.580G>A
Surrounding Variants
1 paper
NM_002128.7
p.D193D
c.579T>C
1 paper
NM_002128.7
p.E194D
c.582A>T
1 paper
NM_002128.7
p.E194D
c.582A>C
1 paper
NM_002128.7
p.E191_E194del0
c.573_581del9
1 paper
NM_002128.7
p.D196E
c.588T>G
1 paper
NM_002128.7
p.D196D
c.588T>C
1 paper
NM_002128.7
p.D196E
c.588T>A
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.E197D
c.591G>T
1 paper
NM_002128.7
p.E197D
c.591G>C
1 paper
NM_002128.7
p.E198*
c.592G>T
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