Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.L191insFs

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
2 papers
NM_000451.4
p.L191insFs
c.572_573insGT
Surrounding Variants
1 paper
NM_000451.4
p.L191L
c.571C>T
1 paper
NM_000451.4
p.L191P
c.572T>C
1 paper
NM_000451.4
p.H190Y
c.568C>T
1 paper
NM_000451.4
p.D192D
c.576C>T
1 paper
NM_000451.4
p.A193T
c.577G>A
1 paper
NM_000451.4
p.A193P
c.577G>C
1 paper
NM_000451.4
p.N189insFs
c.566dupA
1 paper
NM_000451.4
p.C194*
c.582C>A
25 papers
NM_000451.4
p.R195*
c.583C>T
2 papers
NM_000451.4
p.R195Q
c.584G>A
1 paper
NM_000451.4
p.R195P
c.584G>C
2 papers
NM_000451.4
p.L185*
c.554T>A
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