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

1–12 of 91 variants

7 papers

NM_003483.6

p.R75W

c.223C>T

6 papers

NM_003483.6

p.G28E

c.83G>A

5 papers

NM_003483.6

p.A63delFs

c.189delA

5 papers

NM_003483.6

p.Q65*

c.193C>T

4 papers

NM_003483.6

p.A64fs

c.190_191fs

4 papers

NM_003483.6

p.P80L

c.239C>T

3 papers

NM_003483.6

p.Q37_E38Splc

c.111+1G>T

3 papers

NM_003483.6

p.S101delFs

c.303delC

3 papers

NM_003483.6

p.S102fs

c.304_305fs

2 papers

NM_003483.6

p.G17*

c.49G>T

2 papers

NM_003483.6

p.Q18*

c.52C>T

2 papers

NM_003483.6

p.P48delFs

c.144delC