Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.R153L

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
15 papers
NM_000451.4
p.R153L
c.458G>T
Surrounding Variants
1 paper
NM_000451.4
p.R153S
c.457C>A
1 paper
NM_000451.4
p.R153R
c.459C>A
4 papers
NM_000451.4
p.R153G
c.457C>G
3 papers
NM_000451.4
p.R153C
c.457C>T
6 papers
NM_000451.4
p.L154P
c.461T>C
2 papers
NM_000451.4
p.L154R
c.461T>G
2 papers
NM_000451.4
p.S151R
c.453C>A
1 paper
NM_000451.4
p.Q152insFs
c.454_455dupCA
2 papers
NM_000451.4
p.S151R
c.453C>G
2 papers
NM_000451.4
p.G155R
c.463G>A
2 papers
NM_000451.4
p.G155R
c.463G>C
1 paper
NM_000451.4
p.S151N
c.452G>A
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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."