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.Q25H

c.75G>C

Surrounding Variants

1 paper

NM_003483.6

p.K26N

c.78G>C

1 paper

NM_003483.6

p.K26N

c.78G>T

1 paper

NM_003483.6

p.R27T

c.80G>C

6 papers

NM_003483.6

p.G28E

c.83G>A

1 paper

NM_003483.6

p.G30R

c.88G>C

1 paper

NM_003483.6

p.G30D

c.89G>A

1 paper

NM_003483.6

p.A20A

c.60C>T

1 paper

NM_003483.6

p.P19S

c.55C>T

1 paper

NM_003483.6

p.Q18insFs

c.53_54insG

2 papers

NM_003483.6

p.Q18*

c.52C>T

2 papers

NM_003483.6

p.G17*

c.49G>T

1 paper

NM_003483.6

p.Q16_Q18del3

c.46_53del9