Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.G111R

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.G111R
c.331G>C
Surrounding Variants
1 paper
NM_000451.4
p.G111R
c.331G>A
1 paper
NM_000451.4
p.D110A
c.329A>C
4 papers
NM_000451.4
p.Q112*
c.334C>T
1 paper
NM_000451.4
p.D110Y
c.328G>T
2 papers
NM_000451.4
p.Q112P
c.335A>C
1 paper
NM_000451.4
p.Q112H
c.336G>C
1 paper
NM_000451.4
p.Q112H
c.336G>T
1 paper
NM_000451.4
p.E109Q
c.325G>C
1 paper
NM_000451.4
p.E109*
c.325G>T
1 paper
NM_000451.4
p.K114*
c.340A>T
1 paper
NM_000451.4
p.S106W
c.317C>G
4 papers
NM_000451.4
p.K116E
c.346A>G
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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."