Varaico: Literature-Extracted Genetic Variants

Gene:MSX2
Variant:p.R143Q

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.R143Q
c.428G>A
Surrounding Variants
1 paper
NM_002449.5
p.R143fs
c.427_428fs
1 paper
NM_002449.5
p.K144_P145insFs
c.432_433insC
1 paper
NM_002449.5
p.P145L
c.434C>T
1 paper
NM_002449.5
p.T141_R143insFs
c.423_427dup5
1 paper
NM_002449.5
p.P145P
c.435G>A
2 papers
NM_002449.5
p.R146C
c.436C>T
1 paper
NM_002449.5
p.R146H
c.437G>A
1 paper
NM_002449.5
p.R146L
c.437G>T
1 paper
NM_002449.5
p.T147A
c.439A>G
1 paper
NM_002449.5
p.T147M
c.440C>T
1 paper
NM_002449.5
p.P148S
c.442C>T
1 paper
NM_002449.5
p.H139_K140delFs
c.417_418delCA
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