Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.R168P

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.R168P
c.503G>C
Surrounding Variants
3 papers
NM_000451.4
p.R168Q
c.503G>A
3 papers
NM_000451.4
p.R168L
c.503G>T
1 paper
NM_000451.4
p.R168G
c.502C>G
18 papers
NM_000451.4
p.R168W
c.502C>T
1 paper
NM_000451.4
p.R169*
c.505A>T
3 papers
NM_000451.4
p.R169K
c.506G>A
3 papers
NM_000451.4
p.N167D
c.499A>G
27 papers
NM_000451.4
p.A170P
c.508G>C
3 papers
NM_000451.4
p.A170D
c.509C>A
2 papers
NM_000451.4
p.F165S
c.494T>C
4 papers
NM_000451.4
p.W164*
c.492G>A
4 papers
NM_000451.4
p.W164*
c.491G>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."