Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.Y199*

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
4 papers
NM_000451.4
p.Y199*
c.597C>G
Surrounding Variants
4 papers
NM_000451.4
p.Y199*
c.597C>A
1 paper
NM_000451.4
p.V200I
c.598G>A
2 papers
NM_000451.4
p.R195Q
c.584G>A
1 paper
NM_000451.4
p.R195P
c.584G>C
1 paper
NM_000451.4
p.A204P
c.610G>C
1 paper
NM_000451.4
p.A204D
c.611C>A
25 papers
NM_000451.4
p.R195*
c.583C>T
1 paper
NM_000451.4
p.A204V
c.611C>T
1 paper
NM_000451.4
p.C194*
c.582C>A
1 paper
NM_000451.4
p.L205S
c.614T>C
1 paper
NM_000451.4
p.A193T
c.577G>A
1 paper
NM_000451.4
p.A193P
c.577G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."