Varaico: Literature-Extracted Genetic Variants

Gene:MSX2
Variant:p.K164_Q165insFs

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.K164_Q165insFs
c.492_493insA
Surrounding Variants
1 paper
NM_002449.5
p.K164fs
c.490_491fs
1 paper
NM_002449.5
p.K164insFs
c.491_492insC
2 papers
NM_002449.5
p.K164N
c.492A>C
2 papers
NM_002449.5
p.K164N
c.492A>T
1 paper
NM_002449.5
p.Q165fs
c.493_494fs
2 papers
NM_002449.5
p.R162insFs
c.485dupG
1 paper
NM_002449.5
p.Q165H
c.495G>C
1 paper
NM_002449.5
p.Q165H
c.495G>T
1 paper
NM_002449.5
p.F161Y
c.482T>A
2 papers
NM_002449.5
p.R162insFs
c.484dupC
1 paper
NM_002449.5
p.Y166F
c.497A>T
1 paper
NM_002449.5
p.S168delFs
c.504delC
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