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.Q234*

c.700C>T

Surrounding Variants

1 paper

NM_001163678.2

p.P221T

c.661C>A

1 paper

NM_001163678.2

p.A210A

c.630C>T

1 paper

NM_003030.4

p.H227Q

c.681T>G

1 paper

NM_003030.4

p.H227Q

c.681T>A

1 paper

NM_001163678.2

p.Q201*

c.601C>T

1 paper

NM_001163678.2

p.A193V

c.578C>T

1 paper

NM_001163678.2

p.A193P

c.577G>C

1 paper

NM_001163678.2

p.S243R

c.729C>A

1 paper

NM_001163678.2

p.V245A

c.734T>C

3 papers

NM_003030.4

p.H283Q

c.849C>G

3 papers

NM_003030.4

p.H283Q

c.849C>A

1 paper

NM_003030.4

p.A293A

c.879C>T