Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.Q128L

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
3 papers
NM_000451.4
p.Q128L
c.383A>T
Surrounding Variants
1 paper
NM_000451.4
p.Q128K
c.382C>A
1 paper
NM_000451.4
p.E127G
c.380A>G
1 paper
NM_000451.4
p.E127Q
c.379G>C
1 paper
NM_000451.4
p.T125T
c.375G>T
2 papers
NM_000451.4
p.E131D
c.393G>C
2 papers
NM_000451.4
p.E131D
c.393G>T
1 paper
NM_000451.4
p.F124L
c.372C>A
15 papers
NM_000451.4
p.L132V
c.394C>G
1 paper
NM_000451.4
p.F124L
c.372C>G
1 paper
NM_000451.4
p.F124L
c.370T>C
1 paper
NM_000451.4
p.E133K
c.397G>A
1 paper
NM_000451.4
p.E133Q
c.397G>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."