Varaico: Literature-Extracted Genetic Variants

Gene:HMGXB4
Variant:p.E388fs

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.E388fs
c.1162_1163fs
Surrounding Variants
1 paper
NM_001003681.3
p.E388insFs
c.1163_1164insA
2 papers
NM_001003681.3
p.K391delFs
c.1172delA
2 papers
NM_001003681.3
p.K391fs
c.1171_1172fs
1 paper
NM_001003681.3
p.L378_P379insFs
c.1134_1135insC
1 paper
NM_001003681.3
p.K398_E399delFs
c.1193_1196del4
2 papers
NM_001003681.3
p.K398fs
c.1192_1193fs
1 paper
NM_001003681.3
p.K398fs
c.1192_1193fs
4 papers
NM_001003681.3
p.R402_G403delFs
c.1206_1207delAG
1 paper
NM_001003681.3
p.G403fs
c.1207_1208fs
1 paper
NM_001003681.3
p.G403fs
c.1207_1208fs
1 paper
NM_001003681.3
p.E355delFs
c.1065delG
1 paper
NM_001003681.3
p.V351M
c.1051G>A
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