Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.E102*

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.E102*
c.304G>T
Surrounding Variants
1 paper
NM_000451.4
p.V104M
c.310G>A
1 paper
NM_000451.4
p.E99D
c.297G>C
1 paper
NM_000451.4
p.E99D
c.297G>T
1 paper
NM_000451.4
p.E99K
c.295G>A
4 papers
NM_000451.4
p.S106A
c.316T>G
1 paper
NM_000451.4
p.K98insFs
c.292dupA
1 paper
NM_000451.4
p.C97W
c.291C>G
1 paper
NM_000451.4
p.S106W
c.317C>G
1 paper
NM_000451.4
p.Y95insFs
c.284_285insAG
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.D110Y
c.328G>T
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