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.K58delins

c.173_174delinsTG

Surrounding Variants

1 paper

NM_003483.6

p.K58Fs

c.173delinsCCFs

1 paper

NM_003483.6

p.K58Fs

c.172_174delinsCCCTCFs

1 paper

NM_003483.6

p.K58Fs

c.172_174delinsTCCCCTCFs

1 paper

NM_003483.6

p.N57N

c.171C>T

1 paper

NM_003483.6

p.N57delFs

c.171delC

2 papers

NM_003483.6

p.K56E

c.166A>G

1 paper

NM_003483.6

p.P60P

c.180C>T

5 papers

NM_003483.6

p.A63delFs

c.189delA

1 paper

NM_003483.6

p.P52P

c.156C>A

4 papers

NM_003483.6

p.A64fs

c.190_191fs

1 paper

NM_003483.6

p.A64D

c.191C>A

5 papers

NM_003483.6

p.Q65*

c.193C>T