Varaico: Literature-Extracted Genetic Variants

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

1–12 of 31 variants

2 papers

NM_002129.4

p.S100P

c.298T>C

2 papers

NM_002129.4

p.D189E

c.567T>G

2 papers

NM_002129.4

p.D189E

c.567T>A

1 paper

NM_002129.4

p.N7S

c.20A>G

1 paper

NM_002129.4

p.F18F

c.54C>T

1 paper

NM_002129.4

p.T22S

c.64A>T

1 paper

NM_002129.4

p.T22I

c.65C>T

1 paper

NM_002129.4

p.T22S

c.65C>G

1 paper

NM_002129.4

p.S34F

c.101C>T

1 paper

NM_002129.4

p.K43R

c.128A>G

1 paper

NM_002129.4

p.R48I

c.143G>T

1 paper

NM_002129.4

p.K50_T51Splc

c.150+48G>T