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

2 papers

NM_003483.6

p.R49delFs

c.145delA

Surrounding Variants

2 papers

NM_003483.6

p.R49fs

c.145_146fs

1 paper

NM_003483.6

p.P48_K56del0

c.144_167del24

1 paper

NM_003483.6

p.P48A

c.142C>G

1 paper

NM_003483.6

p.R49delins

c.146_147delinsTG

2 papers

NM_003483.6

p.P48delFs

c.144delC

1 paper

NM_003483.6

p.R49R

c.147G>A

1 paper

NM_003483.6

p.K46_R47Fs

c.138_141delinsCTFs

1 paper

NM_003483.6

p.K46fs

c.136_137fs

1 paper

NM_003483.6

p.P52P

c.156C>A

1 paper

NM_003483.6

p.S44delFs

c.131delC

1 paper

NM_003483.6

p.E42_S44delFs

c.126_132del7

2 papers

NM_003483.6

p.K56E

c.166A>G