Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.E148*

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.E148*
c.442G>T
Surrounding Variants
1 paper
NM_000451.4
p.E148K
c.442G>A
10 papers
NM_000451.4
p.R147H
c.440G>A
4 papers
NM_000451.4
p.R147P
c.440G>C
2 papers
NM_000451.4
p.R147L
c.440G>T
2 papers
NM_000451.4
p.R147C
c.439C>T
5 papers
NM_000451.4
p.E149*
c.445G>T
1 paper
NM_000451.4
p.L150delFs
c.448delC
1 paper
NM_000451.4
p.M146T
c.437T>C
1 paper
NM_000451.4
p.M146L
c.436A>C
1 paper
NM_000451.4
p.M146L
c.436A>T
1 paper
NM_000451.4
p.L150fs
c.448_449fs
2 papers
NM_000451.4
p.S151R
c.451A>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."