Varaico: Literature-Extracted Genetic Variants

Gene:MSX1
Variant:p.D18N

MSX1

233 papers

RefSeq Summary

This gene encodes a member of the muscle segment homeobox gene family. The encoded protein functions as a transcriptional repressor during embryogenesis through interactions with components of the cor...

Pfam Domains

Homeodomainaa 173–229UCSCHomeodomain

Gene Aliases

HGNC Name

msh homeobox 1

HGNC Previous Symbol

HOX7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002448.3
p.D18N
c.52G>A
Surrounding Variants
1 paper
NM_002448.3
p.E17V
c.50A>T
1 paper
NM_002448.3
p.S19Fs
c.56delinsGCCGGGTGGGGFs
1 paper
NM_002448.3
p.S19F
c.56C>T
1 paper
NM_002448.3
p.A20delFs
c.59delC
3 papers
NM_002448.3
p.V16_S19delFs
c.46_56del11
1 paper
NM_002448.3
p.F21S
c.62T>C
3 papers
NM_002448.3
p.F21_G22insFs
c.63_64insG
1 paper
NM_002448.3
p.G22fs
c.64_65fs
3 papers
NM_002448.3
p.G22D
c.65G>A
1 paper
NM_002448.3
p.G13D
c.38G>A
1 paper
NM_002448.3
p.G13V
c.38G>T
1 paper
NM_002448.3
p.G13R
c.37G>C
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