Varaico: Literature-Extracted Genetic Variants

Gene:MSX2
Variant:p.P126S

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.P126S
c.376C>T
Surrounding Variants
1 paper
NM_002449.5
p.P125P
c.375G>C
1 paper
NM_002449.5
p.P124L
c.371C>T
1 paper
NM_002449.5
p.S123S
c.369G>C
1 paper
NM_002449.5
p.R127Splc
c.379+5G>T
1 paper
NM_002449.5
p.P124_P125del2
c.370_374del6
2 papers
NM_002449.5
p.W115*
c.345G>A
2 papers
NM_002449.5
p.W115*
c.344G>A
1 paper
NM_002449.5
p.W115insFs
c.343_344insC
2 papers
NM_002449.5
p.W115delFs
c.345delG
1 paper
NM_002449.5
p.G112delFs
c.335delG
1 paper
NM_002449.5
p.D111H
c.331G>C
1 paper
NM_002449.5
p.S106P
c.316T>C
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