Varaico: Literature-Extracted Genetic Variants

Gene:MSX2
Variant:p.W189*

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.W189*
c.566G>A
Surrounding Variants
1 paper
NM_002449.5
p.W189*
c.567G>A
1 paper
NM_002449.5
p.R193G
c.577C>G
1 paper
NM_002449.5
p.R193*
c.577C>T
1 paper
NM_002449.5
p.A195V
c.584C>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.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.A197T
c.589G>A
1 paper
NM_002449.5
p.K198N
c.594A>T
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