Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.W164*

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
4 papers
NM_000451.4
p.W164*
c.492G>A
Surrounding Variants
4 papers
NM_000451.4
p.W164*
c.491G>A
2 papers
NM_000451.4
p.W164S
c.491G>C
2 papers
NM_000451.4
p.F165S
c.494T>C
3 papers
NM_000451.4
p.V163F
c.487G>T
1 paper
NM_000451.4
p.Q162_V163Splc
c.487-1G>A
3 papers
NM_000451.4
p.N167D
c.499A>G
1 paper
NM_000451.4
p.R168G
c.502C>G
18 papers
NM_000451.4
p.R168W
c.502C>T
3 papers
NM_000451.4
p.R168Q
c.503G>A
1 paper
NM_000451.4
p.R168P
c.503G>C
3 papers
NM_000451.4
p.R168L
c.503G>T
1 paper
NM_000451.4
p.R169*
c.505A>T
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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."