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.F168L

c.504C>G

Surrounding Variants

2 papers

NM_003030.4

p.R194*

c.580C>T

1 paper

NM_003030.4

p.P189L

c.566C>T

1 paper

NM_001163678.2

p.T162S

c.485C>G

1 paper

NM_001163678.2

p.S180*

c.539C>A

1 paper

NM_001163678.2

p.S180S

c.540G>A

1 paper

NM_001163678.2

p.L155V

c.463C>G

1 paper

NM_001163678.2

p.R142*

c.424C>T

1 paper

NM_001163678.2

p.K139*

c.415A>T

1 paper

NM_001163678.2

p.K139E

c.415A>G

1 paper

NM_001163678.2

p.R123L

c.368G>T

1 paper

NM_001163678.2

p.K121N

c.363A>T

1 paper

NM_001163678.2

p.K121N

c.363A>C