Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.F136L

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
7 papers
NM_000451.4
p.F136L
c.406T>C
Surrounding Variants
1 paper
NM_000451.4
p.F136fs
c.406_407fs
7 papers
NM_000451.4
p.F136L
c.408C>A
7 papers
NM_000451.4
p.F136L
c.408C>G
1 paper
NM_000451.4
p.L135F
c.403C>T
1 paper
NM_000451.4
p.R134Q
c.401G>A
2 papers
NM_000451.4
p.R134P
c.401G>C
1 paper
NM_000451.4
p.E138*
c.412G>T
2 papers
NM_000451.4
p.E133D
c.399G>C
2 papers
NM_000451.4
p.E133D
c.399G>T
1 paper
NM_000451.4
p.R134_L135del2
c.400_404del6
2 papers
NM_000451.4
p.E138D
c.414G>C
2 papers
NM_000451.4
p.E138D
c.414G>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."