Varaico: Literature-Extracted Genetic Variants

Gene:MSX2
Variant:p.A2V

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.A2V
c.5C>T
Surrounding Variants
1 paper
NM_002449.5
p.S3insFs
c.7dupT
2 papers
NM_002449.5
p.M1T
c.2T>C
1 paper
NM_002449.5
p.M1insFs
c.2dupT
1 paper
NM_002449.5
p.M1V
c.1A>G
1 paper
NM_002449.5
p.P4S
c.10C>T
1 paper
NM_002449.5
p.P4P
c.12G>C
1 paper
NM_002449.5
p.L10*
c.29T>A
1 paper
NM_002449.5
p.L10L
c.30G>A
1 paper
NM_002449.5
p.F11L
c.33T>A
1 paper
NM_002449.5
p.E16K
c.46G>A
2 papers
NM_002449.5
p.G17S
c.49G>A
1 paper
NM_002449.5
p.G25V
c.74G>T
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