Varaico: Literature-Extracted Genetic Variants

Gene:MSX2
Variant:p.S178A

MSX2

198 papers

RefSeq Summary

This gene encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and apoptosis o...

Pfam Domains

Homeodomainaa 143–199UCSCHomeodomain

Gene Aliases

HGNC Name

msh homeobox 2

HGNC Previous Symbol

PFM1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002449.5
p.S178A
c.532T>G
Surrounding Variants
1 paper
NM_002449.5
p.L179V
c.535C>G
1 paper
NM_002449.5
p.S176T
c.526T>A
1 paper
NM_002449.5
p.T182P
c.544A>C
1 paper
NM_002449.5
p.T182A
c.544A>G
1 paper
NM_002449.5
p.T182S
c.544A>T
1 paper
NM_002449.5
p.T182K
c.545C>A
1 paper
NM_002449.5
p.T182R
c.545C>G
1 paper
NM_002449.5
p.T182I
c.545C>T
1 paper
NM_002449.5
p.A173fs
c.517_518fs
1 paper
NM_002449.5
p.R172_A173insFs
c.516_517insG
10 papers
NM_002449.5
p.R172H
c.515G>A
1 paper
NM_002449.5
p.R172P
c.515G>C
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