Varaico: Literature-Extracted Genetic Variants

Gene:HMGB2
Variant:p.M52V

HMGB2

39 papers

RefSeq Summary

This gene encodes a member of the non-histone chromosomal high mobility group protein family. The proteins of this family are chromatin-associated and ubiquitously distributed in the nucleus of higher...

Pfam Domains

HMG_box_2aa 6–79UCSCHMG-box domain
HMG_boxaa 95–163UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

high mobility group box 2

HGNC Previous Names

high-mobility group (nonhistone chromosomal) protein 2; high-mobility group box 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002129.4
p.M52V
c.154A>G
Surrounding Variants
1 paper
NM_002129.4
p.S53C
c.158C>G
1 paper
NM_002129.4
p.G87E
c.260G>A
1 paper
NM_002129.4
p.S100A
c.298T>G
2 papers
NM_002129.4
p.S100P
c.298T>C
1 paper
NM_002129.4
p.P99_S100delFs
c.297_298delAT
1 paper
NM_002129.4
p.F102L
c.306C>G
1 paper
NM_002129.4
p.F105S
c.314T>C
1 paper
NM_002129.4
p.K50_T51Splc
c.150+48G>T
1 paper
NM_002129.4
p.P111Q
c.332C>A
1 paper
NM_002129.4
p.K112T
c.335A>C
1 paper
NM_002129.4
p.S115N
c.344G>A
1 paper
NM_002129.4
p.G119S
c.355G>A
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