Varaico: Literature-Extracted Genetic Variants

Gene:MSX2
Variant:p.A72V

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.A72V
c.215C>T
Surrounding Variants
1 paper
NM_002449.5
p.R77R
c.231G>A
1 paper
NM_002449.5
p.P66P
c.198G>A
1 paper
NM_002449.5
p.P66A
c.196C>G
1 paper
NM_002449.5
p.S63C
c.188C>G
1 paper
NM_002449.5
p.L81P
c.242T>C
1 paper
NM_002449.5
p.A62insFs
c.185dupC
1 paper
NM_002449.5
p.H84R
c.251A>G
1 paper
NM_002449.5
p.P59S
c.175C>T
1 paper
NM_002449.5
p.A86D
c.257C>A
1 paper
NM_002449.5
p.R87W
c.259C>T
3 papers
NM_002449.5
p.A89S
c.265G>T
1 paper
NM_002449.5
p.A89delins
c.265_266delinsTA
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