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.S12P

c.34T>C

Surrounding Variants

1 paper

NM_003483.6

p.S12insFs

c.35_36insG

1 paper

NM_003483.6

p.P11T

c.31C>A

1 paper

NM_003483.6

p.S14*

c.41C>A

1 paper

NM_003483.6

p.S14*

c.41C>G

1 paper

NM_003483.6

p.Q16_Q18del3

c.46_53del9

2 papers

NM_003483.6

p.G17*

c.49G>T

2 papers

NM_003483.6

p.Q18*

c.52C>T

1 paper

NM_003483.6

p.E6Q

c.16G>C

1 paper

NM_003483.6

p.Q18insFs

c.53_54insG

1 paper

NM_003483.6

p.E6del1

c.16_18delGAG

1 paper

NM_003483.6

p.P19S

c.55C>T

1 paper

NM_003483.6

p.R4H

c.11G>A