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.K20del1

c.58_59delCTT

Surrounding Variants

1 paper

NM_001163678.2

p.R26delFs

c.77_78delCC

2 papers

NM_001163678.2

p.P33R

c.98C>G

1 paper

NM_001163678.2

p.L34R

c.101T>G

1 paper

NM_001163678.2

p.A6T

c.16G>A

1 paper

NM_001163678.2

p.E39Q

c.115G>C

1 paper

NM_001163678.2

p.E45D

c.135G>T

1 paper

NM_001163678.2

p.E45D

c.135G>C

1 paper

NM_001163678.2

p.D49H

c.145G>C

1 paper

NM_001163678.2

p.P54Q

c.161C>A

1 paper

NM_001163678.2

p.G74G

c.222C>T

1 paper

NM_001163678.2

p.G69_G76del0

c.207_227del21

2 papers

NM_001163678.2

p.G77D

c.230G>A