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

1–12 of 55 variants

4 papers

NM_001163678.2

p.G81E

c.242G>A

3 papers

NM_003030.4

p.H283Q

c.849C>G

3 papers

NM_003030.4

p.H283Q

c.849C>A

2 papers

NM_001163678.2

p.P33R

c.98C>G

2 papers

NM_001163678.2

p.G77D

c.230G>A

2 papers

NM_003030.4

p.R194*

c.580C>T

2 papers

NM_001163678.2

p.S283S

c.849C>A

1 paper

NM_001163678.2

p.A6T

c.16G>A

1 paper

NM_001163678.2

p.K20del1

c.58_59delCTT

1 paper

NM_001163678.2

p.R26delFs

c.77_78delCC

1 paper

NM_001163678.2

p.L34R

c.101T>G

1 paper

NM_001163678.2

p.E39Q

c.115G>C