Varaico: Literature-Extracted Genetic Variants

SHOX2

56 papers

RefSeq Summary

This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensi...

Pfam Domains

Homeodomainaa 141–197UCSCHomeodomain

OARaa 309–327UCSCOAR motif

Gene Aliases

HGNC Name

SHOX homeobox 2

HGNC Alias Symbols

SHOT; OG12X; OG12

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001163678.2

p.G74G

c.222C>T

Surrounding Variants

1 paper

NM_001163678.2

p.G69_G76del0

c.207_227del21

2 papers

NM_001163678.2

p.G77D

c.230G>A

1 paper

NM_001163678.2

p.V78A

c.233T>C

1 paper

NM_001163678.2

p.V78insFs

c.232_233dupGT

1 paper

NM_001163678.2

p.G77_V78del2

c.229_233del6

1 paper

NM_001163678.2

p.G80V

c.239G>T

4 papers

NM_001163678.2

p.G81E

c.242G>A

1 paper

NM_001163678.2

p.S92A

c.274T>G

1 paper

NM_001163678.2

p.S92P

c.274T>C

1 paper

NM_001163678.2

p.V94F

c.280G>T

1 paper

NM_001163678.2

p.P54Q

c.161C>A

1 paper

NM_001163678.2

p.M99T

c.296T>C