Varaico: Literature-Extracted Genetic Variants

Gene:HMGB3
Variant:p.V36A

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
1 paper
NM_005342.4
p.V36A
c.107T>C
Surrounding Variants
1 paper
NM_005342.4
p.S42S
c.126C>T
1 paper
NM_005342.4
p.K29delFs
c.85delA
1 paper
NM_005342.4
p.E56Q
c.166G>C
1 paper
NM_005342.4
p.A64delFs
c.192delA
1 paper
NM_005342.4
p.K85del1
c.253_254delAAG
1 paper
NM_005342.4
p.K87R
c.260A>G
1 paper
NM_005342.4
p.R95delFs
c.283delA
1 paper
NM_005342.4
p.S98S
c.294T>C
1 paper
NM_005342.4
p.P109H
c.326C>A
1 paper
NM_005342.4
p.V123V
c.369G>C
1 paper
NM_005342.4
p.W131*
c.393G>A
1 paper
NM_005342.4
p.N135D
c.403A>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."