Varaico: Literature-Extracted Genetic Variants

Gene:HMGXB4
Variant:p.E92D

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
Selected Variant
1 paper
NM_001003681.3
p.E92D
c.276A>T
Surrounding Variants
1 paper
NM_001003681.3
p.E92D
c.276A>C
1 paper
NM_001003681.3
p.I88V
c.262A>G
1 paper
NM_001003681.3
p.S102G
c.304A>G
1 paper
NM_001003681.3
p.A121E
c.362C>A
1 paper
NM_001003681.3
p.K151E
c.451A>G
5 papers
NM_001003681.3
p.G165V
c.494G>T
1 paper
NM_001003681.3
p.S169L
c.506C>T
1 paper
NM_001003681.3
p.E186D
c.558G>C
1 paper
NM_001003681.3
p.E186D
c.558G>T
1 paper
NM_001003681.3
p.M192I
c.576G>A
1 paper
NM_001003681.3
p.M192I
c.576G>C
1 paper
NM_001003681.3
p.M192I
c.576G>T
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