Varaico: Literature-Extracted Genetic Variants

Gene:SHOX
Variant:p.R119H

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.R119H
c.356G>A
Surrounding Variants
4 papers
NM_000451.4
p.R119G
c.355C>G
1 paper
NM_000451.4
p.S120fs
c.358_359fs
1 paper
NM_000451.4
p.S120R
c.358A>C
1 paper
NM_000451.4
p.S120delFs
c.359delG
2 papers
NM_000451.4
p.R118M
c.353G>T
1 paper
NM_000451.4
p.R118fs
c.352_353fs
1 paper
NM_000451.4
p.S120R
c.360C>A
1 paper
NM_000451.4
p.S120R
c.360C>G
1 paper
NM_000451.4
p.R121S
c.361C>A
3 papers
NM_000451.4
p.R121C
c.361C>T
1 paper
NM_000451.4
p.Q117E
c.349C>G
2 papers
NM_000451.4
p.R118delFs
c.352_353delAG
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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."