Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.C172*

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.C172*
c.516C>A
Surrounding Variants
1 paper
NM_000451.4
p.R173S
c.517C>A
22 papers
NM_000451.4
p.R173C
c.517C>T
10 papers
NM_000451.4
p.R173H
c.518G>A
3 papers
NM_000451.4
p.R173L
c.518G>T
2 papers
NM_000451.4
p.K174E
c.520A>G
3 papers
NM_000451.4
p.A170D
c.509C>A
27 papers
NM_000451.4
p.A170P
c.508G>C
3 papers
NM_000451.4
p.R169K
c.506G>A
1 paper
NM_000451.4
p.E176*
c.526G>T
1 paper
NM_000451.4
p.R169*
c.505A>T
1 paper
NM_000451.4
p.E176D
c.528G>C
1 paper
NM_000451.4
p.E176D
c.528G>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."