Varaico: Literature-Extracted Genetic Variants

Gene:HMGXB4

HMGXB4

34 papers

RefSeq Summary

High mobility group (HMG) proteins are nonhistone chromosomal proteins. See HMG2 (MIM 163906) for additional information on HMG proteins.[supplied by OMIM, Nov 2010].

Pfam Domains

DUF4171aa 110–215UCSCDomain of unknown function (DUF4171)
HMG_boxaa 407–473UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

HMG-box containing 4

HGNC Previous Symbol

HMG2L1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 43 variants
5 papers
NM_001003681.3
p.G165V
c.494G>T
4 papers
NM_001003681.3
p.R402_G403delFs
c.1206_1207delAG
2 papers
NM_001003681.3
p.K391delFs
c.1172delA
2 papers
NM_001003681.3
p.K391fs
c.1171_1172fs
2 papers
NM_001003681.3
p.K398fs
c.1192_1193fs
1 paper
NM_001003681.3
p.K33R
c.98A>G
1 paper
NM_001003681.3
p.K34N
c.102A>C
1 paper
NM_001003681.3
p.K34N
c.102A>T
1 paper
NM_001003681.3
p.K77R
c.230A>G
1 paper
NM_001003681.3
p.I88V
c.262A>G
1 paper
NM_001003681.3
p.E92D
c.276A>C
1 paper
NM_001003681.3
p.E92D
c.276A>T
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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."