Varaico: Literature-Extracted Genetic Variants

Gene:MSX2
Variant:p.M129T

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
8 papers
NM_002449.5
p.M129T
c.386T>C
Surrounding Variants
1 paper
NM_002449.5
p.M129I
c.387G>A
1 paper
NM_002449.5
p.M129I
c.387G>C
1 paper
NM_002449.5
p.M129I
c.387G>T
1 paper
NM_002449.5
p.S130fs
c.388_389fs
1 paper
NM_002449.5
p.M129_T132delFs
c.385_394del10
1 paper
NM_002449.5
p.R127fs
c.379_380fs
1 paper
NM_002449.5
p.C134F
c.401G>T
1 paper
NM_002449.5
p.H139_K140delFs
c.417_418delCA
1 paper
NM_002449.5
p.T141_R143insFs
c.423_427dup5
1 paper
NM_002449.5
p.R143fs
c.427_428fs
1 paper
NM_002449.5
p.R143Q
c.428G>A
1 paper
NM_002449.5
p.K144_P145insFs
c.432_433insC
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