Varaico: Literature-Extracted Genetic Variants

Gene:MSX2
Variant:p.L208L

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.L208L
c.622C>T
Surrounding Variants
1 paper
NM_002449.5
p.K207N
c.621G>C
1 paper
NM_002449.5
p.A211S
c.631G>T
1 paper
NM_002449.5
p.A212T
c.634G>A
1 paper
NM_002449.5
p.E202Q
c.604G>C
1 paper
NM_002449.5
p.L200insFs
c.600dupG
1 paper
NM_002449.5
p.R199I
c.596G>T
1 paper
NM_002449.5
p.K198N
c.594A>T
1 paper
NM_002449.5
p.A197T
c.589G>A
1 paper
NM_002449.5
p.F220delFs
c.658delT
1 paper
NM_002449.5
p.A195V
c.584C>T
1 paper
NM_002449.5
p.R193G
c.577C>G
1 paper
NM_002449.5
p.R193*
c.577C>T
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