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

7 papers

NM_003483.6

p.R75W

c.223C>T

Surrounding Variants

1 paper

NM_003483.6

p.P76A

c.226C>G

1 paper

NM_003483.6

p.R79T

c.236G>C

1 paper

NM_003483.6

p.P80A

c.238C>G

4 papers

NM_003483.6

p.P80L

c.239C>T

1 paper

NM_003483.6

p.W83*

c.248G>A

2 papers

NM_003483.6

p.W83*

c.249G>A

1 paper

NM_003483.6

p.W83_P84Splc

c.249+6T>A

1 paper

NM_003483.6

p.W83_P84Splc

c.249+6943T>A

1 paper

NM_003483.6

p.W83_P84Splc

c.249+6959A>C