Varaico: Literature-Extracted Genetic Variants

Gene:MSX1
Variant:p.S208S

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.S208S
c.624G>C
Surrounding Variants
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.S207del1
c.619_621delAGC
4 papers
NM_002448.3
p.L211R
c.632T>G
4 papers
NM_002448.3
p.F205C
c.614T>G
2 papers
NM_002448.3
p.E213K
c.637G>A
7 papers
NM_002448.3
p.E204*
c.610G>T
3 papers
NM_002448.3
p.A203T
c.607G>A
1 paper
NM_002448.3
p.A203S
c.607G>T
1 paper
NM_002448.3
p.A203fs
c.607_608fs
8 papers
NM_002448.3
p.Q215insFs
c.644_645insA
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