Varaico: Literature-Extracted Genetic Variants

Gene:MSX1
Variant:p.E213K

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
2 papers
NM_002448.3
p.E213K
c.637G>A
Surrounding Variants
4 papers
NM_002448.3
p.L211R
c.632T>G
8 papers
NM_002448.3
p.Q215insFs
c.644_645insA
2 papers
NM_002448.3
p.Q215P
c.644A>C
1 paper
NM_002448.3
p.V216fs
c.646_647fs
1 paper
NM_002448.3
p.S208S
c.624G>C
1 paper
NM_002448.3
p.S208_L209insFs
c.624_625insA
3 papers
NM_002448.3
p.S208*
c.623C>A
1 paper
NM_002448.3
p.S208L
c.623C>T
1 paper
NM_002448.3
p.I218_W219insG
c.652_656ins3
1 paper
NM_002448.3
p.I218R
c.653T>G
1 paper
NM_002448.3
p.W219R
c.655T>A
1 paper
NM_002448.3
p.W219R
c.655T>C
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