Varaico: Literature-Extracted Genetic Variants

HMGA2

119 papers

RefSeq Summary

This gene encodes a protein that belongs to the non-histone chromosomal high mobility group (HMG) protein family. HMG proteins function as architectural factors and are essential components of the enh...

Pfam Domains

AT_hookaa 26–38UCSCAT hook motif

AT_hookaa 46–58UCSCAT hook motif

AT_hookaa 74–86UCSCAT hook motif

Gene Aliases

HGNC Name

high mobility group AT-hook 2

HGNC Previous Symbol

HMGIC

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003483.6

p.T40insFs

c.119_120insG

Surrounding Variants

1 paper

NM_003483.6

p.T40_E42del0

c.120_125del6

1 paper

NM_003483.6

p.P39_P45del0

c.115_135del21

1 paper

NM_003483.6

p.E38_P45del0

c.114_134del21

1 paper

NM_003483.6

p.E38_G50del0

c.114_149del36

1 paper

NM_003483.6

p.E42_S44delFs

c.126_132del7

1 paper

NM_003483.6

p.E38_P45del0

c.112_135del24

1 paper

NM_003483.6

p.S44delFs

c.131delC

1 paper

NM_003483.6

p.K46fs

c.136_137fs

1 paper

NM_003483.6

p.K46_R47Fs

c.138_141delinsCTFs

1 paper

NM_003483.6

p.Q37_E38Splc

c.112-14T>C

2 papers

NM_003483.6

p.P48delFs

c.144delC

1 paper

NM_003483.6

p.P48A

c.142C>G