Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.R160P

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.R160P
c.479G>C
Surrounding Variants
2 papers
NM_000451.4
p.R160H
c.479G>A
1 paper
NM_000451.4
p.R160C
c.478C>T
2 papers
NM_000451.4
p.V161M
c.481G>A
1 paper
NM_000451.4
p.V161insFs
c.481_482insGT
3 papers
NM_000451.4
p.V161A
c.482T>C
1 paper
NM_000451.4
p.Q162E
c.484C>G
1 paper
NM_000451.4
p.Q162H
c.486G>C
1 paper
NM_000451.4
p.Q162H
c.486G>T
1 paper
NM_000451.4
p.Q162_V163Splc
c.486+2T>C
1 paper
NM_000451.4
p.S157A
c.469T>G
1 paper
NM_000451.4
p.L156R
c.467T>G
1 paper
NM_000451.4
p.L156F
c.466C>T
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