Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.P142_D143delFs

SHOX

205 papers

RefSeq Summary

This gene belongs to the paired homeobox family and is located in the pseudoautosomal region 1 (PAR1) of X and Y chromosomes. Defects in this gene are associated with idiopathic growth retardation and...

Pfam Domains

Homeodomainaa 118–174UCSCHomeodomain
OARaa 270–288UCSCOAR motif

Gene Aliases

HGNC Name

SHOX homeobox

HGNC Alias Symbols

PHOG; GCFX; SHOXY; SHOX1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000451.4
p.P142_D143delFs
c.424_427del4
Surrounding Variants
2 papers
NM_000451.4
p.P142insFs
c.426dupC
2 papers
NM_000451.4
p.P142R
c.425C>G
2 papers
NM_000451.4
p.P142L
c.425C>T
1 paper
NM_000451.4
p.Y141H
c.421T>C
10 papers
NM_000451.4
p.Y141D
c.421T>G
1 paper
NM_000451.4
p.D143fs
c.427_428fs
1 paper
NM_000451.4
p.D143G
c.428A>G
1 paper
NM_000451.4
p.A144P
c.430G>C
1 paper
NM_000451.4
p.A144G
c.431C>G
2 papers
NM_000451.4
p.E138D
c.414G>C
2 papers
NM_000451.4
p.E138D
c.414G>T
1 paper
NM_000451.4
p.E138*
c.412G>T
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