Varaico: Literature-Extracted Genetic Variants

Gene:HMGB3
Variant:p.E193del1

HMGB3

26 papers

RefSeq Summary

This gene encodes a member of a family of proteins containing one or more high mobility group DNA-binding motifs. The encoded protein plays an important role in maintaining stem cell populations, and ...

Pfam Domains

HMG_box_2aa 6–79UCSCHMG-box domain
HMG_boxaa 93–161UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

high mobility group box 3

HGNC Previous Symbol

HMG4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_005342.4
p.E193del1
c.577_578delGAG
Surrounding Variants
1 paper
NM_005342.4
p.E192E
c.576G>A
1 paper
NM_005342.4
p.D199D
c.597T>C
3 papers
NM_005342.4
p.K161fs
c.481_482fs
3 papers
NM_005342.4
p.D159_Y160insFs
c.477_478insTA
1 paper
NM_005342.4
p.K155_D156Splc
c.465+23G>A
1 paper
NM_005342.4
p.Y153*
c.459T>A
1 paper
NM_005342.4
p.Y153*
c.459T>G
1 paper
NM_005342.4
p.N135D
c.403A>G
1 paper
NM_005342.4
p.W131*
c.393G>A
1 paper
NM_005342.4
p.V123V
c.369G>C
1 paper
NM_005342.4
p.P109H
c.326C>A
1 paper
NM_005342.4
p.S98S
c.294T>C
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