Varaico: Literature-Extracted Genetic Variants

Gene:SHOX

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
1–12 of 652 variants
27 papers
NM_000451.4
p.A170P
c.508G>C
27 papers
NM_000451.4
p.A170P
c.508G>C
25 papers
NM_000451.4
p.R195*
c.583C>T
25 papers
NM_000451.4
p.R195*
c.583C>T
22 papers
NM_000451.4
p.R173C
c.517C>T
22 papers
NM_000451.4
p.R173C
c.517C>T
18 papers
NM_000451.4
p.R168W
c.502C>T
18 papers
NM_000451.4
p.R168W
c.502C>T
15 papers
NM_000451.4
p.L132V
c.394C>G
15 papers
NM_000451.4
p.L132V
c.394C>G
15 papers
NM_000451.4
p.R153L
c.458G>T
15 papers
NM_000451.4
p.R153L
c.458G>T
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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."