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.T100I

c.299C>T

Surrounding Variants

3 papers

NM_003483.6

p.S101delFs

c.303delC

3 papers

NM_003483.6

p.S102fs

c.304_305fs

1 paper

NM_003483.6

p.E104K

c.310G>A

2 papers

NM_003483.6

p.A106G

c.317C>G

1 paper

NM_003483.6

p.A106A

c.318C>A

1 paper

NM_003483.6

p.Q94_E95Splc

c.283-8T>C

1 paper

NM_003483.6

p.D109D

c.327C>T

1 paper

NM_003483.6

p.*110Q

c.328T>C